Search research articles
Contact Us
Filters
Showing results (21-30 of 76) with videos related to
Page
of 8
Sort By:
American Journal of Medical Genetics. Part A
|
April 26, 2017
Lissencephaly: Expanded imaging and clinical classification
Nataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, et al.
Journal of Medical Genetics
|
October 10, 2022
Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
Nora Oyama, Pieter Vaneynde, Sara Reynhout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 5, 2020
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations
Kaitlyn Zenner, Dana M Jensen, Tori T Cook, et al.
Journal of the American Academy of Dermatology
|
July 8, 2021
Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies
Olivia M T Davies, Maria C Garzon, Ilona J Frieden, et al.
Pediatric Neurology
|
August 24, 2023
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia
Emily Shelkowitz, Nicholas V Stence, Ilana Neuberger, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2014
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
Ghayda M Mirzaa, Laura Enyedi, Gretchen Parsons, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2015
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism
Kelly Q McMahon, Apostolos Papandreou, Mandy Ma, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, et al.
Annals of Neurology
|
August 29, 2020
PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes
Xiuyu Shi, Youngshin Lim, Abigail K Myers, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
Page
of 8
Search research articles
Search
Showing results (21-30 of 76) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
April 26, 2017
Lissencephaly: Expanded imaging and clinical classification
Nataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, et al.
Journal of Medical Genetics
|
October 10, 2022
Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
Nora Oyama, Pieter Vaneynde, Sara Reynhout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 5, 2020
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations
Kaitlyn Zenner, Dana M Jensen, Tori T Cook, et al.
Journal of the American Academy of Dermatology
|
July 8, 2021
Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies
Olivia M T Davies, Maria C Garzon, Ilona J Frieden, et al.
Pediatric Neurology
|
August 24, 2023
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia
Emily Shelkowitz, Nicholas V Stence, Ilana Neuberger, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2014
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
Ghayda M Mirzaa, Laura Enyedi, Gretchen Parsons, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2015
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism
Kelly Q McMahon, Apostolos Papandreou, Mandy Ma, et al.
American Journal of Medical Genetics. Part A
|
January 10, 2012
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Ghayda M Mirzaa, Robert L Conway, Karen W Gripp, et al.
Annals of Neurology
|
August 29, 2020
PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes
Xiuyu Shi, Youngshin Lim, Abigail K Myers, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
Page
of 8