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Ghayda M Mirzaa

Showing results (1-10 of 76) with videos related to

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Advances in Therapy|July 20, 2022
Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver ExperiencesJoy Dexheimer, Ghayda M Mirzaa
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 4, 2014
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiologyGhayda M Mirzaa, Annapurna Poduri
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 24, 2014
Introduction: Brain malformationsGhayda M Mirzaa, Alex R Paciorkowski
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 24, 2019
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTORWilliam B Dobyns, Ghayda M Mirzaa
American Journal of Medical Genetics. Part A|June 27, 2013
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndromeGhayda M Mirzaa, William B Dobyns
American Journal of Medical Genetics. Part A|November 15, 2015
Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86"Ghayda M Mirzaa, Sarah Collins, William B Dobyns
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 18, 2013
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAPGhayda M Mirzaa, Jean-Baptiste Rivière, William B Dobyns
American Journal of Medical Genetics. Part A|May 3, 2017
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literatureKaylee Park, Laurie E Seltzer, Emily Tuttle, et al.
American Journal of Medical Genetics. Part A|October 20, 2017
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical developmentSavannah Michels, Kimberly Foss, Kaylee Park, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applicationsGhayda M Mirzaa, Kathleen J Millen, A James Barkovich, et al.
Pageof 8

Showing results (1-10 of 76) with videos related to

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Pageof 8
Advances in Therapy|July 20, 2022
Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver ExperiencesJoy Dexheimer, Ghayda M Mirzaa
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 4, 2014
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiologyGhayda M Mirzaa, Annapurna Poduri
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 24, 2014
Introduction: Brain malformationsGhayda M Mirzaa, Alex R Paciorkowski
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 24, 2019
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTORWilliam B Dobyns, Ghayda M Mirzaa
American Journal of Medical Genetics. Part A|June 27, 2013
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndromeGhayda M Mirzaa, William B Dobyns
American Journal of Medical Genetics. Part A|November 15, 2015
Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86"Ghayda M Mirzaa, Sarah Collins, William B Dobyns
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 18, 2013
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAPGhayda M Mirzaa, Jean-Baptiste Rivière, William B Dobyns
American Journal of Medical Genetics. Part A|May 3, 2017
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literatureKaylee Park, Laurie E Seltzer, Emily Tuttle, et al.
American Journal of Medical Genetics. Part A|October 20, 2017
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical developmentSavannah Michels, Kimberly Foss, Kaylee Park, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applicationsGhayda M Mirzaa, Kathleen J Millen, A James Barkovich, et al.
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