Sage Journals: Discover world-class research

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Research article

First published 2014-12

Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes

Didem Yücel-Yılmaz, Berçin Tarlan, Hayyam Kıratlı [...]

DNA and Cell Biology

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Research article

First published 2012-7

Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa

Mohamed Ksantini, Estèle Lafont, Béatrice Bocquet [...]

European Journal of Ophthalmology

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Other

First published 2014

A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Yasser Al-Sarraj, Tawfeg Ben-Omran, Mohammed Tolefat [...]

Journal of Inborn Errors of Metabolism and Screening

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Research article

First published 1996-8

10:30 AM: Locating Genes for Autosomal Recessive Sensorineural Hearing Loss through Homozygosity Mapping

Ross I. S. Zbar, Kunihiro Fukushima, Richard J. H. Smith

Otolaryngology–Head and Neck Surgery

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Research article

First published 2022-3

An inherited night blindness in Wiltshire sheep

Hayley Hunt, Keren E. Dittmer, Dorian J. Garrick [...]

Veterinary Pathology

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Research article

First published 1998-3

Passage to India: The Search for Genes Causing Autosomal Recessive Nonsyndromic Hearing Loss

Ross I. S. Zbar, Arabandi Ramesh, C. R. Srikumari Srisailapathy [...]

Otolaryngology–Head and Neck Surgery

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Research article

First published 2022-01

A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family

Syeda Farwa Naqvi, Rana Muhammad Kamran Shabbir, Aslıhan Tolun [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2018-09

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing

Muhammad Aman Khan, Aneela Hussain, Gulab Sher [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 1999-10

Of Hairless Mice and Men: The Genetic Basis of Congenital Alopecia Universalis/Congenital Atrichia

Sherri J. Bale

Journal of Cutaneous Medicine and Surgery

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Research article

First published 2010-12

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

Michael S. Hildebrand, Kimia Kahrizi, Catherine J. Bromhead [...]

Annals of Otology,Rhinology & Laryngology

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