Detalles de la búsqueda
1.
Current updates on genetic spectrum of usher syndrome.
Nucleosides Nucleotides Nucleic Acids;
: 1-24, 2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38718411
2.
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
Heliyon;
10(1): e23688, 2024 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38192829
3.
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
J Gene Med;
26(1): e3591, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37721116
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37794328
5.
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
Front Neurol;
14: 1168307, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37305761
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37311648
7.
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Genes (Basel);
14(5)2023 05 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37239474
8.
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
Int J Dermatol;
62(5): 672-680, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36789964
9.
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
Genes (Basel);
13(12)2022 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36553564
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35815345
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34719772
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34826358
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34877714
14.
Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
J Genet;
1002021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34470921
15.
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.
Front Pediatr;
9: 727288, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34414147
16.
Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
Genes (Basel);
12(3)2021 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33807935
17.
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
J Pak Med Assoc;
71(10): 2391-2396, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34974577
18.
The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family.
Front Genet;
12: 782653, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35145545
19.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Genes (Basel);
11(11)2020 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33187236
20.
Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Eur J Dermatol;
30(4): 408-416, 2020 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32819890