Detalhe da pesquisa
1.
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
J Gene Med
; 26(1): e3591, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721116
2.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Clin Genet
; 104(4): 499-501, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37311648
3.
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
BMC Neurol
; 23(1): 353, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794328
4.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Hum Mutat
; 43(10): 1472-1489, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815345
5.
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Biotechnol Appl Biochem
; 69(6): 2296-2303, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34826358
6.
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis
; 37(1): 243-252, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719772
7.
Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
J Clin Lab Anal
; 36(1): e24127, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877714
8.
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
J Pak Med Assoc
; 71(10): 2391-2396, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34974577
9.
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
BMC Med Genet
; 21(1): 97, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32380970
10.
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.
J Pak Med Assoc
; 70(1): 143-146, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31954040
11.
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Ann Hum Genet
; 83(4): 278-284, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868578
12.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum Genet
; 138(6): 593-600, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982135
13.
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
Int J Mol Sci
; 20(21)2019 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31652981
14.
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
J Pak Med Assoc
; 69(12): 1812-1816, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31853109
15.
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
Ann Hum Genet
; 82(3): 171-176, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282707
16.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Hum Genet
; 137(9): 735-752, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167849
17.
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
BMC Med Genet
; 19(1): 160, 2018 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30200890
18.
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.
J Hum Genet
; 63(10): 1071-1076, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30033443
19.
Molecular Characterization of ß-Thalassemia Mutations Via the Amplification Refractory Mutation System-Polymerase Chain Reaction Method at the North Waziristan Agency, Pakistan.
Hemoglobin
; 42(2): 91-95, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30200837
20.
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
BMC Med Genet
; 18(1): 42, 2017 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28403827