Sage Journals: Discover world-class research

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Research article

First published 1988-04

Hereditary hepatitis of LEC rats is controlled by a single autosomal recessive gene

Laboratory Animals

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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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Other

First published 2010-6

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

Rizwana Kousar, Hira Nawaz, Maryam Khurshid [...]

Journal of Child Neurology

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Case report

First published 2023-9

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait

Yunting Lin, Xiaodan Chen, Cuili Liang [...]

European Journal of Ophthalmology

Open access

Case report

First published 2022

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene

Rohan Sharma, Akilandeswari Aravindhan, Clara Puente [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 2005-05

Mitochondrial Myopathy,Sideroblastic Anemia,and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene

Avraham Zeharia, Nathan Fischel-Ghodsian, Kari Casas [...]

Journal of Child Neurology

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Brief report

First published 2003-06

A Simple Method of Screening for the Common Connexin-26 Gene 35delG Mutation in Nonsyndromic Neurosensory Autosomal Recessive Deafness

Miguel Fernández-Burriel, Francisco Rodríguez-Quiñones

Genetic Testing and Molecular Biomarkers

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Research article

First published 2023-11

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families

Muhammad Asif, Chien-Chun Chiou, Malik Fiaz Hussain [...]

DNA and Cell Biology

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Research article

First published 2024-03

Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the IL12B Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection

Karina Mescouto de Melo, Fabíola Scancetti Tavares, Thales Silva Antunes [...]

Pediatric Allergy,Immunology,and Pulmonology

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Letter

First published 2009-08

The Gene of Bloom's Syndrome: An Autosomal Recessive Disorder with Male Dominance

Deniz Aslan, Fatih Suheyl Ezgu

Genetic Testing and Molecular Biomarkers

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