Salman Kirmani

6PUBLICATIONS
19CO-AUTHORS
Infant and child healthGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Genetics not elsewhere classifiedCancer genetics
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Publications (6)

|Aug 22, 2026
Growth and Neurodevelopmental Outcomes of Children With Congenital Hypothyroidism Identified Through Dried Blood Spot Newborn Screening at a Tertiary Care Hospital in Pakistan.

|May 12, 2025
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.

Tinatin Tkemaladze, Kakha Bregvadze, Luka Abashishvili

|Jun 27, 2023
The spectrum of hereditary neuromuscular disorders in the Pakistani population.

Fizza Akbar, Shafaq Muhammad Saleem, Ehtesham Khalid

|Aug 22, 2022
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).

Zul Qarnain, Fatima Khan, Fizza Akbar

|Jan 31, 2022
Challenges and opportunities in the establishment of a hereditary breast cancer clinic at an academic medical center in a low-middle income country.

Lubaina Ehsan, Muhammad Talha Waheed, Fizza Akbar

|Jun 03, 2021
Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry.

Ayat Siddiqui, Laila Akbar Ladak, Abdul Momin Kazi

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Frequent Collaborators

4 joint publications

Fizza Akbar

1 joint publications

Ayat Siddiqui

1 joint publications

Laila Akbar Ladak

1 joint publications

Abdul Momin Kazi