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Disease Models & Mechanisms
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June 26, 2024
Founder mutations and rare disease in the Arab world
Dana Marafi
Frontiers in Molecular Neuroscience
|
September 26, 2022
WIPI proteins: Biological functions and related syndromes
Mohammed Almannai, Dana Marafi, Ayman W El-Hattab
Neurology
|
December 16, 2018
Spectrum and time course of epilepsy and the associated cognitive decline in <i>MECP2</i> duplication syndrome
Dana Marafi, Bernhard Suter, Rebecca Schultz, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
July 12, 2019
Picking up the pace
Dana Marafi, Steven Fussner, Yvonne Y Chen, et al.
Muscle & Nerve
|
November 4, 2020
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
Isabella Herman, Michael A Lopez, Dana Marafi, et al.
Global Medical Genetics
|
June 17, 2026
Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait
Fares Alhammad, Nawal Y Ali, Sumaya Alkanderi, et al.
American Journal of Medical Genetics. Part A
|
July 1, 2026
Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease
Reem M Elshafie, Hind Alsharhan, Hanai Abulabqah, et al.
European Journal of Medical Genetics
|
August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly
Nishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
British Journal of Haematology
|
August 23, 2023
Human 'knockouts' of CSF3 display severe congenital neutropenia
Ebtissal Khouj, Dana Marafi, Bayan Aljamal, et al.
Research Square
|
March 11, 2024
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32
James Lupski, Zain Dardas, Dana Marafi, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 70) with videos related to
Sort By:
Page
of 7
Disease Models & Mechanisms
|
June 26, 2024
Founder mutations and rare disease in the Arab world
Dana Marafi
Frontiers in Molecular Neuroscience
|
September 26, 2022
WIPI proteins: Biological functions and related syndromes
Mohammed Almannai, Dana Marafi, Ayman W El-Hattab
Neurology
|
December 16, 2018
Spectrum and time course of epilepsy and the associated cognitive decline in <i>MECP2</i> duplication syndrome
Dana Marafi, Bernhard Suter, Rebecca Schultz, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
July 12, 2019
Picking up the pace
Dana Marafi, Steven Fussner, Yvonne Y Chen, et al.
Muscle & Nerve
|
November 4, 2020
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
Isabella Herman, Michael A Lopez, Dana Marafi, et al.
Global Medical Genetics
|
June 17, 2026
Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait
Fares Alhammad, Nawal Y Ali, Sumaya Alkanderi, et al.
American Journal of Medical Genetics. Part A
|
July 1, 2026
Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease
Reem M Elshafie, Hind Alsharhan, Hanai Abulabqah, et al.
European Journal of Medical Genetics
|
August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly
Nishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
British Journal of Haematology
|
August 23, 2023
Human 'knockouts' of CSF3 display severe congenital neutropenia
Ebtissal Khouj, Dana Marafi, Bayan Aljamal, et al.
Research Square
|
March 11, 2024
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32
James Lupski, Zain Dardas, Dana Marafi, et al.
Page
of 7