Detalles de la búsqueda
1.
Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers.
Mol Biol Rep
; 51(1): 276, 2024 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38315301
2.
Contributing risk factors of common psychiatric disorders in the Pakistani population.
Eur Arch Psychiatry Clin Neurosci
; 273(4): 963-981, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36583741
3.
Association of 11 variants of the dopaminergic and cognitive pathways genes with major depression, schizophrenia and bipolar disorder in the Pakistani population.
Int J Neurosci
; : 1-13, 2023 Aug 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37642370
4.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31079899
5.
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Int J Neurosci
; : 1-11, 2022 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36282036
6.
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.
Genet Res (Camb)
; 97: e19, 2015 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26438105
7.
Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.
Children (Basel)
; 10(6)2023 Jun 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37371259
8.
Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders.
Heliyon
; 9(9): e19718, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37810058
9.
A common missense variant rs874881 of PADI4 gene and rheumatoid arthritis: Genetic association study and in-silico analysis.
Gene
; 854: 147123, 2023 Feb 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36535460
10.
Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani population.
Gene
; 848: 146899, 2023 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36126820
11.
Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
Acta Neurol Belg
; 124(1): 321-324, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37380819
12.
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.
Gene
; 538(1): 30-5, 2014 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24440292
13.
Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
PLoS One
; 9(11): e112687, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25405613
14.
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.
Gene
; 519(1): 177-81, 2013 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23403234
Resultados
1 -
14
de 14
1
Próxima >
>>