Nadia Waheed

Islamabad, IS, Pakistan

Last Updated: 09/26/2026

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Found 11 publications

Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients.

Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients.

Journal: Molecular syndromology

Published: October 15, 2025

Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants.

Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants.

Journal: QJM : monthly journal of the Association of Physicians

Published: July 15, 2025

Frequency of vitamin D deficiency in children with iron deficiency anaemia and factors associated with vitamin D deficiency.

Frequency of vitamin D deficiency in children with iron deficiency anaemia and factors associated with vitamin D deficiency.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: May 16, 2024

Primary Antibiotic Resistance And Effectiveness Of Clarithromycin Vs Metronidazole Based Therapy For Helicobacter Pylori Infection In Children.

Primary Antibiotic Resistance And Effectiveness Of Clarithromycin Vs Metronidazole Based Therapy For Helicobacter Pylori Infection In Children.

Journal: Journal of Ayub Medical College, Abbottabad : JAMC

Published: February 26, 2024

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.

Journal: Molecular biology reports

Published: December 27, 2023

An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease.

An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease.

Journal: Med (New York, N.Y.)

Published: December 18, 2023

Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.

Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.

Journal: Clinical genetics

Published: August 18, 2023

Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain.

Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain.

Journal: Immunogenetics

Published: June 12, 2022

A case of multisystem inflammatory syndrome in children presenting as systemic onset juvenile idiopathic arthritis.

A case of multisystem inflammatory syndrome in children presenting as systemic onset juvenile idiopathic arthritis.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: January 31, 2022

Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.

Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.

Journal: Journal of Ayub Medical College, Abbottabad : JAMC

Published: July 17, 2017

Iron status: is there a role in febrile seizures?

Iron status: is there a role in febrile seizures?

Journal: Journal of Ayub Medical College, Abbottabad : JAMC

Published: July 01, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026