Detalhe da pesquisa
1.
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
J Gene Med
; 26(1): e3601, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758467
2.
Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
Mol Biol Rep
; 51(1): 573, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662334
3.
Comprehensive in-silico analysis of deleterious SNPs in APOC2 and APOA5 and their differential expression in cancer and cardiovascular diseases conditions.
Genomics
; 115(2): 110567, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690263
4.
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Clin Genet
; 103(2): 219-225, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155908
5.
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.
Medicina (Kaunas)
; 59(2)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36837579
6.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
7.
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-up.
Clin Genet
; 100(6): 659-677, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195994
8.
The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings.
J Biomol Struct Dyn
; 42(7): 3700-3711, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37222604
9.
Structural and dynamics insights into the GBA variants associated with Parkinson's disease.
J Biomol Struct Dyn
; : 1-13, 2023 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434319
10.
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Front Pediatr
; 11: 1266376, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37900685
11.
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.
Genes (Basel)
; 13(8)2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35893069
12.
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
Int J Dev Neurosci
; 82(8): 789-805, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36181241
13.
A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.
BMC Med Genomics
; 14(1): 2, 2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397372
14.
Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Eur J Med Genet
; 63(11): 104041, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853829