Detalhe da pesquisa
1.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217872
2.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
3.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
4.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
5.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
J Med Genet
; 58(12): 815-831, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172956
6.
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
BMC Med Genet
; 21(1): 59, 2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32209057
7.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
8.
Etiology and outcomes of convulsive status epilepticus in children.
Pak J Med Sci
; 35(3): 620-623, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31258564
9.
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Front Mol Neurosci
; 17: 1222935, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38495551
10.
Comparison of Efficacy and Safety of Low- Versus High-Dose Oral Prednisolone in Infantile Spasm (IS): An Open Label Randomized Controlled Trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan.
Cureus
; 14(3): e23164, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444917
11.
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Eur J Med Genet
; 65(11): 104620, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122674
12.
Wind speed pattern data and wind energy potential in Pakistan: current status, challenging platforms and innovative prospects.
Environ Sci Pollut Res Int
; 28(26): 34051-34073, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33119799
13.
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
J Neurol Sci
; 411: 116669, 2020 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006740