R. Shomrat

发表

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

R. Carmi, M. Horowitz, N. Navot, 1998, Human mutation.

Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

N. C. Schanen, A. Orr-Urtreger, Y. Yaron, 2002, Journal of child neurology.

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

D. Bercovich, A. Orr-Urtreger, Y. Yaron, 2002, Human mutation.

Novel mutations in the emerin gene in Israeli families

A. Orr-Urtreger, Y. Nevo, Y. Yaron, 2001, Human mutation.

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.

J. Groden, A. Orr-Urtreger, Y. Yaron, 1998, Genetic testing.

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews.

D. Bercovich, O. Aizenstein, A. Orr-Urtreger, 2003, Genetic testing.

Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome.

S. Avigad, I. Cohen, R. Zaizov, 1998, Cancer letters.

Large-scale population screening for spinal muscular atrophy: Clinical implications

S. Ben-Shachar, A. Orr-Urtreger, Y. Yaron, 2011, Genetics in Medicine.

Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia

T. Golan, A. Orr-Urtreger, B. Katz, 2011, Leukemia & lymphoma.

Cytogenetic analysis of 101 skull base tumors

Z. Gil, A. Orr-Urtreger, D. Fliss, 2008 .

Multiplex Nested PCR for Preimplantation Genetic Diagnosis of Spinal Muscular Atrophy

A. Orr-Urtreger, Y. Yaron, J. Lessing, 2004, Fetal Diagnosis and Therapy.

SMA type 2 unrelated to chromosome 5q13.

Y. Nevo, U. Kramer, D. Soffer, 1998, American journal of medical genetics.

A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients.

Y. Shiloh, M. Glassner, C. Legum, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Cytogenetic Analysis of Sinonasal Carcinomas

Z. Gil, A. Orr-Urtreger, S. Spektor, 2006, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

A. Orr-Urtreger, P. Rozen, C. Legum, 2004, Familial Cancer.

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations

A. Eliakim, Y. Anikster, J. Sack, 2010, Clinical endocrinology.

Diminished Capping of Lymphocytes From Pregnant Women

R. Shomrat, N. Kosower, 1983, American journal of reproductive immunology : AJRI : official journal of the American Society for the Immunology of Reproduction and the International Coordination Committee for Immunology of Reproduction.

Dynamic changes of red cell membrane thiol groups followed by bimane fluorescent labeling.

E. Kosower, R. Shomrat, N. Kosower, 1981, Biochimica et biophysica acta.

Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.

S. Shalitin, E. Vilain, Z. Josefsberg, 2002, Molecular genetics and metabolism.

Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients.

Y. Shiloh, C. Legum, R. Shomrat, 1994, American journal of medical genetics.

Cytogenetic analysis of 101 skull base tumors.

Z. Gil, A. Orr-Urtreger, D. Fliss, 2009, Head & neck.

Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer.

P Rozen, A. Orr-Urtreger, P. Rozen, 1999, Gastroenterology.

Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells

M. Brusel, U. Nudel, D. Yaffe, 1993 .

Use of dystrophin genomic and cDNA probes for solving difficulties in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy.

Y. Shiloh, C. Legum, R. Shomrat, 1992, American journal of medical genetics.

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APCmutation in exon 9

P. Rozen, C. Legum, R. Shomrat, 1999, Gut.

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia

P. Taussky, A. Orr-Urtreger, Y. Yaron, 2002, Cancer.

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

D. Bercovich, A. Orr-Urtreger, Y. Yaron, 2002, Human mutation.

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.

A. Orr-Urtreger, Y. Yaron, H. Peretz, 2000, Genetic testing.

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

K. Weiss, S. Ben-Shachar, A. Orr-Urtreger, 2014, Genetics in Medicine.

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.

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

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2012, Journal of Neurology.

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

A. Orr-Urtreger, Y. Nevo, S. Harel, 1999, Prenatal diagnosis.