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Research article

First published 2001-2

Anaesthesia in a Child with Autosomal Recessive Omodysplasia

B. J. Di Luca, A. Mitchell

Anaesthesia and Intensive Care

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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

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Research article

First published 2023-11

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree

Feng Hu, Qian Li, Jie Shi [...]

European Journal of Ophthalmology

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Case report

First published 2022-7

Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment

Yousef Ahmed Fouad, Caroline Atef Tawfik, Mohamed Nowara

Journal of VitreoRetinal Diseases

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Case report

First published 2012-11

Nonsyndromic Cleft Lip and Palate in Boxer Dogs: Evidence of Monogenic Autosomal Recessive Inheritance

Enio Moura, Silvana M. Cirio, Cláudia T. Pimpão

The Cleft Palate Craniofacial Journal

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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

Open access

Research article

First published 2025

Attitudes of Parents With a Child With Autosomal Recessive Disease Toward Consanguinity

Yagoub Al-Kandari, Shaker Bahzad, Dina Ramadan [...]

INQUIRY: The Journal of Health Care Organization,Provision,and Financing

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Research article

First published 1989-07

Autosomal Recessive Cerebellar Hypoplasia

Katherine D. Mathews, Adel K. Afifi, James W. Hanson

Journal of Child Neurology

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Case report

First published 2022-9

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient

Marina Soto-Sierra, María José Morillo-Sánchez, Marta Martín-Sánchez [...]

European Journal of Ophthalmology

Free access

Case report

First published 2021-3

Homozygous autosomal recessive hypercholesterolaemia in a South Asian child presenting with multiple cutaneous xanthomata

V Thadchanamoorthy, Kavinda Dayasiri, S I Majitha [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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