Nadia Waheed

Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 19 publications

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: September 12, 2023

Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.

Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: January 02, 2022

Indicators Of Hepatopulmonary Syndrome In Patients With Portal Hypertension. Its Various Aetiologies, Clinical Presentations And Outcome.

Indicators Of Hepatopulmonary Syndrome In Patients With Portal Hypertension. Its Various Aetiologies, Clinical Presentations And Outcome.

Journal: Journal of Ayub Medical College, Abbottabad : JAMC

Published: March 28, 2021

Severe Acute Respiratory Syndrome Coronavirus-2 Infection in Children With Liver Transplant and Native Liver Disease: An International Observational Registry Study.

Severe Acute Respiratory Syndrome Coronavirus-2 Infection in Children With Liver Transplant and Native Liver Disease: An International Observational Registry Study.

Journal: Journal of pediatric gastroenterology and nutrition

Published: February 19, 2021

Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.

Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.

Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

Published: April 28, 2020

Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.

Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.

Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

Published: April 25, 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Journal: NPJ genomic medicine

Published: March 16, 2020

Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).

Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).

Journal: Human heredity

Published: February 20, 2020

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 30, 2019

Unusual case of Juvenile Tay-Sachs disease.

Unusual case of Juvenile Tay-Sachs disease.

Journal: BMJ case reports

Published: September 15, 2019

Rare presentation of haemobilia and Loeffler's pneumonia in a child by ascaris lumbricoides.

Rare presentation of haemobilia and Loeffler's pneumonia in a child by ascaris lumbricoides.

Journal: BMJ case reports

Published: August 31, 2019

Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.

Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.

Journal: Hepatology (Baltimore, Md.)

Published: August 05, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026