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Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
Journal article   Peer reviewed

Clinical and genetic characterization of patients segregating variants in KPTN , MINPP1 , NGLY1 , AP4B1 , and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

Asmat Ullah, Abid Ali Shah, Majed Alluqmani, Nighat Haider, Hasan Aman, Fatima Alfadhli, Ahmad M. Almatrafi, Alia M. Albalawi, Jai Krishin, Fati Ullah Khan, …
International journal of developmental neuroscience, Vol.82(8), pp.789-805
12/2022
PMID: 36181241

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