Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
2.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952832
3.
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
4.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.
J Ayub Med Coll Abbottabad
; 29(1): 78-82, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712180
12.
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.
Hepatology
; 71(5): 1879-1882, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863603
13.
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
14.
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
15.
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
16.
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
17.
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
medRxiv
; 2024 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746364
18.
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
19.
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
20.
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