M. Frydman

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

M. Lovett, F. Collins, S. Weissman, 1995, Science.

Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.

M. Frydman, C. Greiber, H. Cohen, 1985, American journal of medical genetics.

Eight closely linked loci place the Wilson disease locus within 13q14-q21.

A. Bowcock, L. Farrer, H. Scheffer, 1988, American journal of human genetics.

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Y. Anikster, M. Frydman, E. Pras, 2002, Human Genetics.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

T. Walsh, M. King, N. Shomron, 2011, Genome Biology.

Velocardiofacial manifestations and microdeletions in schizophrenic inpatients.

M. Frydman, H. Munitz, A. Frisch, 1997, American journal of medical genetics.

Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy

E. Friedman, M. Frydman, G. Barkai, 2000, Prenatal diagnosis.

Familial syndromic esophageal atresia maps to 2p23-p24.

R. Hennekam, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) Familial syndromic esophegeal atresia maps to p 23p 24

R. Hennekam, J. Tolmie, H. Brunner, 2022 .

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

M. Frydman, E. Pras, E. Pras, 2000, Investigative ophthalmology & visual science.

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

K. Avraham, M. Frydman, S. Vreugde, 2000, Archives of otolaryngology--head & neck surgery.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Predominance of null mutations in ataxia-telangiectasia.

Y. Shiloh, S. Gilad, O. Sanal, 1996, Human molecular genetics.

Identification of ATM mutations using extended RT‐PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A‐T mutations in Israel

Y. Shiloh, S. Gilad, O. Sanal, 1998, Human mutation.

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

J. Rosenfeld, B. Torchia, L. Shaffer, 2013, Molecular Syndromology.

A single origin of phenylketonuria in Yemenite Jews

Y. Shiloh, M. Frydman, S. Avigad, 1990, Nature.

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

R. Gershoni-baruch, M. Frydman, Amos Etzioni, 1992, American journal of medical genetics.

PRENATAL DIAGNOSIS OF RAMBAM–HASHARON SYNDROME

E. Shalev, M. Frydman, J. Orlin, 1996 .

Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information.

M. Papa, E. Friedman, M. Frydman, 2002, American journal of medical genetics.

Germline mutations in the PTEN gene in Israeli patients with Bannayan–Riley–Ruvalcaba syndrome and women with familial breast cancer

D. Lev, E. Friedman, A. Figer, 2002, Clinical genetics.

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

L. Farrer, M. Frydman, P. Conneally, 1985, Proceedings of the National Academy of Sciences of the United States of America.

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

D. Ben-Amitai, M. Frydman, E. Pras, 2006, The Journal of investigative dermatology.

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients

P. Byers, D. Lev, E. Friedman, 2004, Human mutation.

Oculo‐palato‐cerebral dwarfism: a new syndrome

M. Frydman, A. Kauschansky, I. Leshem, 1985, Clinical genetics.

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

E. Haan, M. Wagner, M. Frydman, 1995, Human molecular genetics.

G2 chromosomal radiosensitivity in families with ataxia-telangiectasia

Y. Shiloh, R. Parshad, K. Sanford, 1989, Human Genetics.

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

K. Kidd, L. Cavalli-Sforza, A. Bowcock, 1987, American journal of human genetics.

Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome.

Abraham Weizman, M. Frydman, A. Apter, 2007, The international journal of neuropsychopharmacology.

Endocrine studies of the ovulatory disturbances in Wilson's disease (hepatolenticular degeneration).

M. Frydman, R. Homburg, H. Kaufman, 1987, Fertility and sterility.

Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.

D. Rimoin, M. Frydman, J. Bar-ziv, 1990, American journal of medical genetics.

Cardiac involvement in glycogen storage disease type III

M. Frydman, K. Wanderman, S. Moses, 1989, European Journal of Pediatrics.

Wilson Disease in Israel and Vicinity

M. Frydman, A. Amir, E. Shteyer, 2019, Clinical and Translational Perspectives on WILSON DISEASE.

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

M. Frydman, E. Pras, U. Nir, 2008, American journal of human genetics.

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

K. Avraham, M. Frydman, A. Orr-Urtreger, 1999, Human Genetics.

The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis

M. Frydman, E. Pras, H. Yonath, 2011, Journal of medical screening.

Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature

R. Gershoni-baruch, M. Frydman, A. Mory, 2010, Journal of Clinical Immunology.

Shift of cerebrospinal polymorphonuclear cell percentage in the early stage of aseptic meningitis.

M. Frydman, R. Handsher, L. Harel, 1991, The Journal of pediatrics.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

M. Frydman, E. Pras, E. Pras, 2006, Investigative ophthalmology & visual science.

Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC

S. Polak‐Charcon, J. Kuint, M. Frydman, 2008, American journal of medical genetics. Part A.

Evolution of palmar skin creases in the Ehlers‐Danlos syndrome

M. Frydman, R. Goodman, M. Katznelson, 1972, Clinical genetics.

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene

H. Baris, M. Frydman, E. Pras, 2011, Journal of Applied Genetics.

Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome

M. Frydman, F. Shabtai, I. Halbrecht, 2022 .

MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.

L. Sirota, M. Frydman, A. Kauschansky, 1997, American journal of medical genetics.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

K. Avraham, M. Frydman, Z. Brownstein, 2014, Journal of basic and clinical physiology and pharmacology.

Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome

H. Hermesh, Abraham Weizman, M. Frydman, 1999, Schizophrenia Research.

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.

K. Avraham, M. Frydman, H. Levi, 2006, Archives of otolaryngology--head & neck surgery.

Ambiguous genitalia in the Proteus syndrome.

M. Frydman, A. Kauschansky, I. Vrsano, 1990, American journal of medical genetics.

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

I. Kaitila, A. Winterpacht, Brendan H. Lee, 1998, American journal of human genetics.

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency.

A Etzioni, R. Gershoni-baruch, M. Frydman, 1992, The New England journal of medicine.

Leukonychia totalis in two sibs.

M. Frydman, H. Cohen, 1993, American journal of medical genetics.

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome.

M. Frydman, H. Cohen, I. Varsano, 1991, American journal of medical genetics.

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

M. Kantorow, S. Riazuddin, M. Frydman, 2011, American journal of human genetics.

Interstitial deletion 2q14q21.

J. Steinberger, M. Frydman, I. Varsano, 1989, American journal of medical genetics.

Recurrent parotitis.

M. Frydman, M. Nussinovitch, H. Cohen, 1992, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Late onset fulminant Wilson's disease: a case report and review of the literature.

M. Frydman, O. Pappo, Z. Ben Ari, 2014, World journal of gastroenterology.

Chromosome Abnormalities in infants with prune belly anomaly: association with trisomy 18.

T. Mohandas, M. Frydman, R. Magenis, 1983, American journal of medical genetics.

Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase.

M. Frydman, R. Steinherz, F. Shabtai, 1986, American journal of medical genetics.

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

M. Frydman, F. Shabtai, I. Halbrecht, 1979, Journal of medical genetics.

Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome?

M. Frydman, H. Cohen, I. Varsano, 1993, American journal of medical genetics.

Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

Y. Shiloh, M. Lathrop, C. Julier, 1992, Human Genetics.

Familial isolated growth-hormone deficiency with advanced sexual maturation.

M. Frydman, Z. Laron, A. Kauschansky, 1993, American journal of diseases of children.

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

M. Frydman, E. Pras, E. Pras, 2004, Investigative ophthalmology & visual science.

Evaluation of human chorionic gonadotropin stimulation tests in prepubertal and early pubertal boys

M. Frydman, M. Nussinovitch, A. Kauschansky, 1995, European Journal of Pediatrics.

Prolonged parasympathetic paralysis and psychosis caused by atropine eye drops.

M. Frydman, A. Kauschansky, L. Harel, 1985, Journal of pediatric ophthalmology and strabismus.

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

S. Cichon, M. Nöthen, A. Hillmer, 2003, Nature Genetics.

Idiopathic Familial Intussusception

M. Frydman, A. Vardi, G. Paret, 1995, Clinical pediatrics.

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

Schizophrenia and Marfan Syndrome

L. Sirota, M. Frydman, P. Sirota, 1990, British Journal of Psychiatry.

Comparison of fetal and maternal chromosome polymorphisms: Applications in prenatal diagnosis

T. Mohandas, M. Frydman, D. Greenberg, 1982 .

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

Mordechai Shohat, Serena Sirigu, Karen B Avraham, 2013, European Journal of Human Genetics.

Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.

L. D. de Vries, L. Sirota, M. Frydman, 1993, American journal of medical genetics.

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

M. Hildesheimer, T. Friedman, K. Avraham, 2004, Pediatric Research.

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

Vered Kunik, B. Pode-Shakked, O. Barel, 2022, Frontiers in Pediatrics.

Language in boys with fragile X syndrome.

Y. Levy, M. Frydman, M. Sagi, 2006, Journal of child language.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

M. King, Ming K. Lee, C. Morton, 1998, Science.

Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24).

M. Frydman, H. Cohen, H. Cohen, 2000, American journal of medical genetics.

Epidemiology of cystic fibrosis: a review.

M. Frydman, 1979, Journal of chronic diseases.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Identification of eight novel NSD1 mutations in Sotos syndrome

N. Niikawa, K. Yoshiura, N. Matsumoto, 2003, Journal of medical genetics.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

T. Walsh, M. King, N. Shomron, 2020, bioRxiv.

Infection with the hepatitis A virus associated with ascites in children.

M. Frydman, J. Hart, H. Cohen, 1992, American journal of diseases of children.

Obsessive‐compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome

Abraham Weizman, Mordechai Shohat, Yehuda Finkelstein, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Benign paroxysmal torticollis in infancy.

M. Frydman, M. Nussinovitch, H. Cohen, 1993, Pediatric Neurology.

Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue.

D. Lev, H. Rehder, M. Frydman, 2000, American journal of medical genetics.

Cerebrospinal Fluid Pleocytosis In Children with Pneumonia but Lacking Evidence Of Meningitis

M. Frydman, M. Nussinovitch, H. Cohen, 1993, Clinical pediatrics.

Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?

D. Vilozni, M. Frydman, R. Somech, 2011, The Journal of pediatrics.

Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins

M. Frydman, Y. Zalel, R. Achiron, 2000, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Noonan syndrome: a cryptic condition in early gestation.

S. Yagel, M. Frydman, D. Grisaru, 2000, American journal of medical genetics.

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

V. Sybert, M. Frydman, J. Zonana, 1997, American journal of human genetics.

Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

E. Wolf, M. D. de Angelis, K. Avraham, 2013, Human mutation.

Postcircumcision Urinary Tract Infection

M. Drucker, M. Frydman, H. Cohen, 1992, Clinical pediatrics.

Childhood protein-losing enteropathy associated with Helicobacter pylori infection.

M. Frydman, H. Cohen, I. Varsano, 1991, Journal of pediatric gastroenterology and nutrition.

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.

M. Upadhyaya, M. Frydman, O. Hamiel, 1993, The Journal of pediatrics.

Mumps-associated acute cerebellar ataxia.

M. Frydman, J. Hart, M. Nussinovitch, 1992, American journal of diseases of children.

Familial lipoid adrenal hyperplasia: genetic marker data and an approach to prenatal diagnosis.

B. Bonné-Tamir, M. Frydman, A. Kauschansky, 1986, American journal of medical genetics.

Ataxia-telangiectasia: founder effect among north African Jews.

Y. Shiloh, S. Gilad, D. Tagle, 1996, Human molecular genetics.

D-penicillamine-induced pancreatic islet autoantibody production is independent of the immunogenetic background: a lesson from patients with Wilson's disease.

D. Lazard, M. Frydman, E. Sprecher, 1998, Clinical immunology and immunopathology.

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

J. Sebat, T. Walsh, M. King, 2010, American journal of human genetics.

Megalocornea, macrocephaly, mental and motor retardation (MMMM)

M. Frydman, R. Goodman, M. Berkenstadt, 1990, Clinical genetics.

The ATC (ataxia-telangiectasia complementation group C) locus localizes to 11q22-q23.

Y. Shiloh, T. Foroud, R. Gatti, 1991, Genomics.

The otolaryngologist and the patient with velocardiofacial syndrome.

M. Lerner, M. Frydman, Y. Finkelstein, 1993, Archives of otolaryngology--head & neck surgery.

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

L. Farrer, A. DeStefano, C. Baldwin, 1996, American journal of human genetics.

Connexin-associated deafness and speech perception outcome of cochlear implantation.

J. Kronenberg, M. Hildesheimer, L. Kishon-Rabin, 2006, Archives of otolaryngology--head & neck surgery.

Predictive testing for Wilson's disease using tightly linked and flanking DNA markers

L. Cavalli-Sforza, L. Cavalli-Sforza, J. Hebert, 1991, Neurology.

Wilson's disease in Israel: a genetic and epidemiological study

L. Cavalli-Sforza, A. Bowcock, B. Bonné-Tamir, 1990, Annals of human genetics.

Negative expansion of the myotonic dystrophy unstable sequence.

I. Lerer, D. Abeliovich, M. Frydman, 1993, American journal of human genetics.

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11

D. Labuda, D. Sinnett, I. Craig, 1988, Human Genetics.

Different phenotypic expression in monozygotic twins with Huntington disease

Nir Giladi, M. Anca, M. Frydman, 2004, American journal of medical genetics. Part A.

Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins.

M. Frydman, A. Kauschansky, I. Varsano, 1993, American journal of medical genetics.

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

M. Frydman, I. Halbrecht, E. Elian, 1981, Journal of medical genetics.

inversion of chromosome 9 . mosaic trisomy and pericentric development in a child with Normal psychomotor

M. Frydman, F. Shabtai, I. Halbrecht, 2022 .

Evidence for linkage between Wilson disease and esterase D in three kindreds: Detection of linkage for an autosomal recessive disorder by the family study method

L. Farrer, D. Rao, B. Bonné-Tamir, 1986, Genetic epidemiology.

Genetic aspects of Wilson's disease

M. Frydman, 1990, Journal of gastroenterology and hepatology.

Prenatal diagnosis of nail‐patella syndrome

M. Frydman, E. Gak, M. Clough, 1999, Prenatal diagnosis.

Extraordinary daytime urinary frequency in children.

M. Frydman, M. Nussinovitch, A. Kauschansky, 1993, The Journal of family practice.

Trigonocephaly: a new familial syndrome.

J. Opitz, M. Frydman, A. Kauschansky, 1984, American journal of medical genetics.

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

E. Bertini, K. Pelin, E. Mercuri, 2014, Human mutation.

No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome

E. Friedman, M. Frydman, G. Barkai, 1997, Human Genetics.

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

I. Lerer, D. Abeliovich, M. Frydman, 1996, American journal of medical genetics.

Implications of cystic fibrosis for health services and the afflicted.

M. Frydman, 1979, Social science & medicine.

Melkersson-Rosenthal syndrome.

M. Frydman, A. Kauschansky, H. Cohen, 1994, Cutis.

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

M. Frydman, E. Pras, E. Pras, 2002, American journal of human genetics.

Multiple supernumerary teeth (MSNT) and Ehlers-Danlos syndrome (EDS): a case report.

M. Frydman, G. Barkai, Y. Melamed, 1994, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

Hypouricemia due to familial isolated renal tubular uricosuria. Evaluation with the combined pyrazinamide-probenecid test.

M. Frydman, U. Gafter, J. Levi, 1989, Mineral and electrolyte metabolism.

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23

M. Frydman, E. Pras, J. Hejtmancik, 2006, Journal of Medical Genetics.

Familial simple hypohidrosis with abnormal palmar dermal ridges.

M. Frydman, A. Kauschansky, H. Cohen, 1988, American journal of medical genetics.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Andrew R. Grant, H. P. Kang, Marina T. DiStefano, 2018, Genetics in Medicine.

Unverricht‐Lundborg disease: Absence of nonallelic genetic heterogeneity

F. Andermann, G. Rouleau, G. Rouleau, 1993, Annals of neurology.

Hyperprolactinemia after treatment of long-acting gonadotropin-releasing hormone analogue Decapeptyl in girls with central precocious puberty.

M. Frydman, M. Nussinovitch, A. Kauschansky, 1995, Fertility and sterility.

Fixed Drug Eruption of the Scrotum Due to Methylphenidate

M. Frydman, M. Nussinovitch, H. Cohen, 1992, The Annals of pharmacotherapy.

Congenital Agammaglobulinemia Presenting with Ecthyma Gangrenosum

M. Frydman, M. Nussinovitch, H. Cohen, 1991, Acta paediatrica Scandinavica.

Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature

M. Frydman, H. Cohen, H. Savir, 1992, Clinical genetics.

Screening for fragile X syndrome in women of reproductive age

H. Cuckle, M. Frydman, L. Peleg, 2000, Prenatal diagnosis.

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

S. Polak‐Charcon, V. Lehtokari, C. Wallgren‐Pettersson, 2012, Prenatal diagnosis.

Corneal erosions and encephalopathy following exposure to "Rhino-Caps".

M. Frydman, H. Savir, V. Fulga, 1992, Journal of pediatric ophthalmology and strabismus.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Andrew R. Grant, H. P. Kang, Marina T. DiStefano, 2019, Genetics in Medicine.

The genetic entity of hypochondroplasia

M. Frydman, M. Hertz, R. Goodman, 1974, Clinical genetics.

Endocrine studies of the ovulatory disturbances in Wilson’s disease (hepatolenticular degeneration)

M. Frydman, R. Homburg, H. Kaufman, 1987 .

Autosomal‐dominant cutis laxa resulting from an intronic mutation in ELN

O. Sarig, E. Sprecher, M. Frydman, 2015, Experimental dermatology.

The LINC complex is essential for hearing.

K. Jeang, C. Stewart, H. F. Horn, 2013, The Journal of clinical investigation.

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

M. Frydman, E. Pras, H. Garzozi, 2001, The Israel Medical Association journal : IMAJ.

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers

M. Frydman, L. Peleg, A. Frisch, 1998, European Journal of Human Genetics.

Fixed Drug Eruption Caused by Acetaminophen

M. Frydman, M. Nussinovitch, H. Cohen, 1992, The Annals of pharmacotherapy.

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.

Y. Shiloh, H. Goebel, M. Frydman, 1995, American journal of medical genetics.

Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease

K. Kidd, L. Cavalli-Sforza, A. Bowcock, 1988, Human Genetics.

Assessment of the hypothalamic-pituitary-testicular function in male patients with Wilson's disease.

B. Bonné-Tamir, M. Frydman, A. Kauschansky, 1991, Journal of andrology.

The Marfan syndrome.

M. Frydman, 2008, The Israel Medical Association journal : IMAJ.

Confirmation of the association between male pattern baldness and the androgen receptor gene.

M. Frydman, E. Pras, M. Bar‐Natan, 2005, European journal of dermatology : EJD.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

The LINC complex is essential for hearing.

K. Jeang, C. Stewart, H. F. Horn, 2013, The Journal of clinical investigation.

Neonatal Thyroid Function following Exchange Transusion

M. Frydman, A. Kauschansky, F. Dulitzky, 1987 .

Mucolipidosis III and bardet-biedl syndrome in the same family: Diagnostic pitfalls

C. Gordon, N. Gadoth, M. Frydman, 1990, Brain and Development.

Male fertility in factor XIII deficiency.

B. Bonné-Tamir, M. Frydman, R. Zamir, 1986, Fertility and sterility.

Transverse myelitis following mumps in children

M. Frydman, M. Nussinovitch, I. Varsano, 1992, Acta paediatrica.

'Breech head' with brow presentation.

M. Frydman, E. Wassman, D. Sillence, 1980, American journal of diseases of children.