Detalhe da pesquisa
1.
Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan.
Prenat Diagn
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488835
2.
The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Am J Med Genet A
; 191(10): 2536-2550, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366078
3.
Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country.
BMC Pregnancy Childbirth
; 23(1): 431, 2023 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301973
4.
Blue rubber bleb nevus syndrome in a Pakistani child: A case report and regional literature review.
J Pak Med Assoc
; 72(2): 349-353, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320191
5.
A descriptive case series of necrotising enterocolitis; occurrence at Aga Khan University Hospital.
J Pak Med Assoc
; 72(9): 1838-1841, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36280987
6.
Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.
J Pak Med Assoc
; 72(3): 526-531, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320237
7.
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Genet Med
; 23(5): 900-908, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473208
8.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
9.
Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Clin Lab
; 67(6)2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107619
10.
Maple syrup urine disease: magnetic resonance imaging findings in three patients.
J Pak Med Assoc
; 71(4): 1309-1313, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125801
11.
Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country.
Pak J Med Sci
; 37(7): 1896-1901, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34912414
12.
Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing.
Pak J Med Sci
; 36(2): 290-292, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063977
13.
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.
J Pak Med Assoc
; 69(4): 509-513, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31000854
14.
Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.
J Pak Med Assoc
; 69(3): 432-436, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890842
15.
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
J Pak Med Assoc
; 68(4): 510-514, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808036
16.
Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries.
Pak J Med Sci
; 33(4): 1036-1041, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29067088
17.
Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.
Can J Neurol Sci
; 47(2): 280-282, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31918782
18.
Pre-natal genetic counseling in a resource limited country--a single center geneticist's perspectives.
J Pak Med Assoc
; 64(9): 1008-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25823178
19.
Glutaric aciduria type 1--importance of early diagnosis and treatment.
J Pak Med Assoc
; 64(5): 593-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25272554
20.
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
Eur J Pediatr
; 172(9): 1249-53, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23881342