Last Updated: 09/26/2026
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Found 82 publications
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025.
Journal: Journal of community genetics
Published: May 23, 2026
Growth and Neurodevelopmental Outcomes of Children With Congenital Hypothyroidism Identified Through Dried Blood Spot Newborn Screening at a Tertiary Care Hospital in Pakistan.
Journal: Endocrinology, diabetes & metabolism
Published: May 07, 2026
Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.
Journal: Expert review of hematology
Published: December 25, 2025
Experiences of caregivers and healthcare providers regarding health services for children with Down syndrome in Karachi; Pakistan.
Journal: PLOS global public health
Published: September 05, 2025
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.
Journal: Human genomics
Published: August 06, 2025
Risk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settings.
Journal: Annals of pediatric cardiology
Published: June 16, 2025
MicroRNA Expression and Neurocognitive Outcomes in Children and Young People With Primary Brain Tumor in Karachi, Pakistan: A Pilot Exploratory Study.
Journal: Brain tumor research and treatment
Published: March 24, 2025
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan.
Journal: Journal of neuromuscular diseases
Published: February 20, 2025
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Journal: Nature genetics
Published: October 21, 2024
Consensus guidelines for the management of pediatric medulloblastoma in low and middle-income countries.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: September 12, 2024
Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciences.
Journal: BMC medical education
Published: August 31, 2024
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
Journal: American journal of medical genetics. Part A
Published: August 18, 2024
Last Updated: 09/26/2026