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Ghayda M Mirzaa

Showing results (61-70 of 76) with videos related to

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American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
Human Mutation|October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database UpdateLijia Huang, Megan R Vanstone, Taila Hartley, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Pageof 8