Detalhe da pesquisa
1.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
3.
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Clin Genet
; 104(4): 491-496, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270786
4.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379057
5.
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
J Med Genet
; 59(10): 957-964, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916232
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.
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene
; 833: 146582, 2022 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35597529
8.
Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.
Sci Rep
; 11(1): 6737, 2021 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33762593
9.
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Neurol Res
; 43(2): 133-140, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246395
10.
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med
; 8(2): e1060, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923348
11.
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Mol Genet Genomic Med
; 7(8): e834, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294530