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1.
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.
Mol Biol Rep
; 51(1): 104, 2024 Jan 15.
Article
in English
| MEDLINE | ID: mdl-38224417
2.
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Clin Genet
; 104(3): 324-333, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37317634
3.
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Am J Med Genet A
; 188(4): 1251-1258, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34913263
4.
Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families.
Pak J Med Sci
; 38(1): 84-89, 2022.
Article
in English
| MEDLINE | ID: mdl-35035405
5.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34244665
6.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin Genet
; 100(4): 486-488, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34270086
7.
Putative Roles of Plant-Derived Tannins in Neurodegenerative and Neuropsychiatry Disorders: An Updated Review.
Molecules
; 24(12)2019 Jun 13.
Article
in English
| MEDLINE | ID: mdl-31200495
8.
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Genes (Basel)
; 14(1)2022 12 23.
Article
in English
| MEDLINE | ID: mdl-36672789
9.
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Genes (Basel)
; 12(5)2021 05 13.
Article
in English
| MEDLINE | ID: mdl-34068194
10.
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Mol Genet Genomic Med
; 8(9): e1408, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32677750
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