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Publications by S.A. Sheikh

INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

Clinical Genetics
Genetics
2018English

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Autosomal Recessive Congenital Cataract in Captive-Bred Vervet Monkeys (Chlorocebus Aethiops )

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A FRMD7 Variant in a Japanese Family Causes Congenital Nystagmus

Human Genome Variation
BiochemistryGeneticsMolecular Biology
2015English

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

PLoS ONE
Multidisciplinary
2017English

A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology
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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics
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2011English

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

2020English

A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance

Journal of Medical Genetics
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2004English

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Circulation Research
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2003English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology
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