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Abid Jan

Quaid-i-Azam University
Kohat University of Science and Technology

25

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180

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Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

2021 International Journal of Ophthalmology
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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein truncating mutations of ASPM.

2021 Biotechnology and Applied Biochemistry
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Woodhouse‐Sakati Syndrome in a Family is Associated with Homozygous Start Loss Mutation in the DCAF17 Gene

2019 Clinical and Experimental Dermatology
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A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly

2019 Clinical Genetics
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Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families

2019 Journal of Pakistan Medical Association
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A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

2018 Human Genetics
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Author response for "A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly"

2018
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Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

2018 Clinical and Experimental Dermatology
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Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III

2018 Pediatrics International
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Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families

2017 International Journal of Dermatology
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