T. Maher

发表

LADD syndrome is caused by FGF10 mutations

J. Milunsky, D. Everman, G. Zhao, 2006, Clinical genetics.

Prenatal molecular diagnosis of tuberous sclerosis complex.

J. Milunsky, Masamichi Ito, A. Milunsky, 2009, American journal of obstetrics and gynecology.

Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

K. Al-Thihli, N. Braverman, R. Basran, 2011, American journal of medical genetics. Part A.

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

J. Hirschhorn, A. Dauber, J. Picker, 2010, Pediatrics.

Connexin-26 gene analysis in hearing-impaired newborns.

B. Vohr, J. Milunsky, T. Maher, 2000, Genetic testing.

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

J. Milunsky, V. Michels, A. Milunsky, 2001, American journal of medical genetics.

Highly polymorphic short tandem repeat analyses clarify complex molecular test results.

L. Farrer, J. Milunsky, R. Lebo, 2001, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

J. Milunsky, T. Maher, Stephanie Newton, 2010, American journal of medical genetics. Part A.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

M. White, M. Dean, B. Gerrard, 1992 .

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

J. Milunsky, L. A. Flore, E. Leon, 2012, Journal of Pediatric Genetics.

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X‐linked dominant Conradi‐Hunermann‐Happle syndrome and a mutation in EBP

J. Milunsky, T. Maher, A. Metzenberg, 2003, American journal of medical genetics. Part A.

Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes.

J. Milunsky, R. Oates, T. Maher, 2000, Chest.

An Update on Current Surgical Practices and Outcomes

J. Milunsky, R. Oates, T. Maher, 2015 .

Response to correspondence from Happle—“Hypomorphic alleles within the EBP gene cause a phenotype quite different from conradi‐hunermann‐Happle”

J. Milunsky, T. Maher, A. Metzenberg, 2003 .

A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export

T. Südhof, H. Tager-Flusberg, J. Milunsky, 2009, The Journal of Neuroscience.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

K. Spengos, S. Shim, C. Konialis, 2005, Prenatal diagnosis.

Prenatal Diagnosis for Schmid Metaphyseal Chondrodysplasia in Twins

J. Milunsky, R. Lebo, A. Milunsky, 1998, Fetal Diagnosis and Therapy.

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.

A. Milunsky, A. Vaglio, R. Quadrelli, 2010, Genetic testing and molecular biomarkers.

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.

Aubrey Milunsky, Thomas Maher, J. Milunsky, 2002, Human reproduction.

TFAP2A mutations result in branchio-oculo-facial syndrome.

Geping Zhao, J. Mulliken, J. Milunsky, 2008, American journal of human genetics.

Mutation analysis in Rett syndrome.

J. Milunsky, R. Lebo, C. Haverty, 2001, Genetic testing.

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

J. Milunsky, J. Amos, A. Milunsky, 1991, American journal of obstetrics and gynecology.

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.

A. Milunsky, A. Vaglio, R. Quadrelli, 2008, European journal of medical genetics.

The value of MLPA in Waardenburg syndrome.

J. Milunsky, M. Ito, A. Milunsky, 2007, Genetic testing.

Gene sequencing in neonates and infants with the long QT syndrome.

Masamichi Ito, S. Shim, A. Milunsky, 2005, Genetic testing.

Fragile X carrier screening and spinocerebellar ataxia in older males

J. Milunsky, T. Maher, 2004, American journal of medical genetics. Part A.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

M. White, B. Gerrard, J. Amos, 1992, JAMA.