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UnknownPathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
Not available
S-EPMC7518604 | biostudies-literature
UnknownPutting the Pieces Together: the Hair Cell Transduction Complex.
Not available
S-EPMC8599550 | biostudies-literature
UnknownCase report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia.
Not available
S-EPMC9888409 | biostudies-literature
UnknownIdentities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
Not available
S-EPMC6386514 | biostudies-literature
UnknownUsher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Not available
S-EPMC1234923 | biostudies-literature
UnknownBiallelic variants in <i>MRPL49</i> cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Not available
S-EPMC11483032 | biostudies-literature
UnknownExome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Not available
S-EPMC5658665 | biostudies-literature
UnknownRoutine health management information system data in Ethiopia: consistency, trends, and challenges.
Not available
S-EPMC7833046 | biostudies-literature
UnknownExploring data quality and use of the routine health information system in Ethiopia: a mixed-methods study.
Not available
S-EPMC8710857 | biostudies-literature
UnknownHigher dose corticosteroids in hospitalised COVID-19 patients requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial.
Not available
S-EPMC11872607 | biostudies-literature
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