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muhammad umar shahzad
(1 results)?
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.
J Hum Genet. 2018 Jan;63(1):97-100. doi: 10.1038/s10038-017-0358-y. Epub 2017 Nov 16.
J Hum Genet. 2018.
PMID: 29215096
Clinical Trial.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, Gul A.
Khan S, et al. Among authors: umair m.
BMC Med Genet. 2019 Dec 18;20(1):199. doi: 10.1186/s12881-019-0907-7.
BMC Med Genet. 2019.
PMID: 31852446
Free PMC article.
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A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W.
Ahmad F, et al. Among authors: umair m.
Eur J Dermatol. 2018 Apr 1;28(2):209-216. doi: 10.1684/ejd.2017.3210.
Eur J Dermatol. 2018.
PMID: 29611532
Free PMC article.
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