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1.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33711248
2.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37517035
3.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37711075
4.
Syntheses and structural characterization of divalent metal complexes (Co, Ni, Pd and Zn) of sterically hindered thiourea ligand and a theoretical insight of their interaction with SARS-CoV-2 enzyme.
J Mol Struct
; 1274: 134442, 2023 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36337589
5.
Association of different blood groups in patients with Dengue fever and their relationship with the severity of the illness.
Pak J Med Sci
; 39(5): 1301-1306, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37680846
6.
Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
Int J Neurosci
; : 1-6, 2022 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35645363
7.
Synthesis, characterization, antioxidant, antileishmanial, anticancer, DNA and theoretical SARS-CoV-2 interaction studies of copper(II) carboxylate complexes.
J Mol Struct
; 1253: 132308, 2022 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34980930
8.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34244665
9.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 109(3): 542-546, 2022 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35245475
10.
Direct oral anticoagulant use in left ventricular thrombus.
Thromb J
; 18: 29, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33132763
11.
Investigation of Entropy in Two-Dimensional Peristaltic Flow with Temperature Dependent Viscosity, Thermal and Electrical Conductivity.
Entropy (Basel)
; 22(2)2020 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33285976
12.
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
Hum Mutat
; 40(7): 899-903, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30927481
13.
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Int J Neurosci
; 129(9): 890-895, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30892110
14.
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Ann Neurol
; 82(4): 562-577, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28892560
15.
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
BMC Med Genet
; 18(1): 144, 2017 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29207948
16.
A retrospective study of clinico-pathological characteristics of colonic polyps in adults seen at a tertiary care centre.
J Pak Med Assoc
; 67(1): 12-14, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28065946
17.
Follicular dendritic cell sarcoma presenting as colonic intussusception.
J Pak Med Assoc
; 67(12): 1923-1926, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-29256544
18.
Sex cord stromal tumours of the ovary, experience at Shifa International Hospital Islamabad.
J Pak Med Assoc
; 67(7): 1107-1108, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28770898
19.
Large-Scale Fabrication of Polymer Microcavities with Adjustable Openings and Surface Roughness Regulated by the Polarity of both Seed Surface and Monomers.
Macromol Rapid Commun
; 37(1): 47-52, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26479068
20.
Fatty acids characterization, oxidative perspectives and consumer acceptability of oil extracted from pre-treated chia (Salvia hispanica L.) seeds.
Lipids Health Dis
; 15(1): 162, 2016 Sep 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-27647503