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UnknownPhenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.
Not available
S-EPMC9028228 | biostudies-literature
UnknownAnalysis of differential expression of matrix metalloproteinases and defensins in the nasopharyngeal milieu of mild and severe COVID-19 cases.
Not available
S-EPMC11835293 | biostudies-literature
UnknownMutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Not available
S-EPMC3376419 | biostudies-literature
UnknownIdentification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Not available
S-EPMC6561484 | biostudies-literature
UnknownNovel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Not available
S-EPMC6202120 | biostudies-literature
UnknownAdenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Not available
S-EPMC4030782 | biostudies-literature
UnknownVariants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Not available
S-EPMC6724712 | biostudies-literature
UnknownBiallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Not available
S-EPMC8725574 | biostudies-literature
UnknownExome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Not available
S-EPMC5658665 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
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