Detalhe da pesquisa
1.
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 143(3): 311-329, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459354
2.
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
J Med Genet
; 60(4): 352-358, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002240
3.
Anti-inflammatory and anti-arthritic potential of Coagulansin-A: in vitro and in vivo studies.
Inflammopharmacology
; 32(2): 1225-1238, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411787
4.
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
BMC Musculoskelet Disord
; 24(1): 735, 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37710205
5.
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Hum Genet
; 141(3-4): 633-648, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34308486
6.
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Hum Genet
; 141(3-4): 805-819, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338890
7.
RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.
J Psychiatry Neurosci
; 47(6): E379-E390, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318984
8.
Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.
BMC Psychiatry
; 22(1): 709, 2022 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384485
9.
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
J Med Genet
; 58(5): 351-356, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32591345
10.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
J Med Genet
; 58(4): 237-246, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439809
11.
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC Musculoskelet Disord
; 23(1): 818, 2022 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36042462
12.
A comprehensive review of federated learning for COVID-19 detection.
Int J Intell Syst
; 37(3): 2371-2392, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37520859
13.
Variants of human CLDN9 cause mild to profound hearing loss.
Hum Mutat
; 42(10): 1321-1335, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265170
14.
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Hum Mutat
; 42(1): 89-101, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252156
15.
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
BMC Musculoskelet Disord
; 22(1): 31, 2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407338
16.
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
BMC Musculoskelet Disord
; 22(1): 630, 2021 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34284742
17.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Hum Mol Genet
; 27(5): 780-798, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293958
18.
Growth factor and receptor malfunctions associated with human genetic deafness.
Clin Genet
; 97(1): 138-155, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506927
19.
Association of hepatocyte growth factor gene polymorphisms with primary angle closure glaucoma from Lahore, Pakistan.
J Pak Med Assoc
; 70(2): 208-212, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063608
20.
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
J Med Genet
; 55(6): 403-407, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28830906