Detalhe da pesquisa
1.
The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
J Pak Med Assoc
; 73(8): 1610-1621, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697751
2.
Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.
J Pak Med Assoc
; 71(10): 2350-2354, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34974569
3.
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
Hum Hered
; 84(6): 279-286, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075783
4.
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Fetal Pediatr Pathol
; 39(5): 430-440, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31584309
5.
Haemobilia: secondary to micro aneurysms of hepatic artery.
J Pak Med Assoc
; 70(5): 917-919, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400753
6.
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.
Pak J Med Sci
; 36(3): 479-484, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32292456
7.
Clinical Spectrum Of Solitary Rectal Ulcer In Children Presenting With Per-Rectal Bleed.
J Ayub Med Coll Abbottabad
; 29(1): 74-77, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712179
8.
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore.
J Pak Med Assoc
; 66(8): 984-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27524533
9.
Celiac Crisis: A Rare Or Rarely Recognized Disease.
J Ayub Med Coll Abbottabad
; 28(4): 672-675, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28586591
10.
Spontaneous Perforation Of Bile Duct, Clinical Presentation, Laboratory Work Up, Treatment And Outcome.
J Ayub Med Coll Abbottabad
; 28(3): 518-522, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712226
11.
CLINICAL PRESENTATION, AETIOLOGY AND COMPLICATIONS OF PANCREATITIS IN CHILDREN.
J Ayub Med Coll Abbottabad
; 27(3): 628-32, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721025
12.
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
medRxiv
; 2024 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746364
13.
Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.
Cureus
; 15(5): e39181, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37332400
14.
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
Turk J Gastroenterol
; 34(10): 1088-1098, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603299
15.
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Life Sci Alliance
; 6(3)2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635046
16.
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
J Pediatr Endocrinol Metab
; 36(2): 152-157, 2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524979
17.
Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
J Coll Physicians Surg Pak
; 32(2): 236-238, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108799
18.
Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.
J Coll Physicians Surg Pak
; 32(2): 242-246, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108801
19.
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.
J Pediatr Endocrinol Metab
; 35(11): 1429-1432, 2022 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106528
20.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Eur J Hum Genet
; 30(9): 1029-1035, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35614200