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Rizwan Khan

Rizwan Khan

Xiamen University - Xiamen / China
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5865653
厦门大学
person_outline Rizwan Khan's MOST POPULAR ARTICLES
1-) Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type The American Journal of Human Genetics 95 (6), 649-659, 2014
2-) Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy Human Genetics 140 (4), 579-592, 2021
3-) Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features Neurological Sciences 40 (11), 2325-2331, 2019
4-) Excess of RALGAPB de novo variants in neurodevelopmental disorders European Journal of Medical Genetics 63 (11), 20-27, 2020
5-) A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds Ophthalmic Genetics 41 (1), 7-12, 2020