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Myla Ashfaq

Showing results (11-20 of 20) with videos related to

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Journal of Community Genetics|October 20, 2022
Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussionMyla Ashfaq, Syed A Ahmed, Rabia Aziz-Rizvi, et al.
JIMD Reports|November 6, 2023
Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American originShelby L Mills, Paige Roberts, Myla Ashfaq, et al.
Mitochondrion|March 19, 2021
Hypoglycemia in mitochondrial disordersMyla Ashfaq, Allison R Moats, Hope Northrup, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
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Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Journal of Community Genetics|October 20, 2022
Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussionMyla Ashfaq, Syed A Ahmed, Rabia Aziz-Rizvi, et al.
JIMD Reports|November 6, 2023
Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American originShelby L Mills, Paige Roberts, Myla Ashfaq, et al.
Mitochondrion|March 19, 2021
Hypoglycemia in mitochondrial disordersMyla Ashfaq, Allison R Moats, Hope Northrup, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
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