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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variant
Raphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Elife
|
April 19, 2021
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation
Laura Morcom, Ilan Gobius, Ashley Pl Marsh, et al.
Acta Neuropathologica
|
August 23, 2017
Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia
Nicholas T Olney, Carolina Alquezar, Eliana Marisa Ramos, et al.
Biological Psychiatry
|
May 21, 2018
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Carolyn Le, Emanuela Argilli, Elizabeth George, et al.
Human Mutation
|
October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Ashley P L Marsh, Timothy J Edwards, Charles Galea, et al.
Endocrinology
|
August 5, 2015
Life-Long Implications of Developmental Exposure to Environmental Stressors: New Perspectives
Philippe Grandjean, Robert Barouki, David C Bellinger, et al.
Human Mutation
|
January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variants
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
American Journal of Human Genetics
|
April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Brieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Plos Genetics
|
May 29, 2007
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, et al.
Page
of 29
Search research articles
Search
Showing results (251-260 of 290) with videos related to
Sort By:
Page
of 29
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variant
Raphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Elife
|
April 19, 2021
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation
Laura Morcom, Ilan Gobius, Ashley Pl Marsh, et al.
Acta Neuropathologica
|
August 23, 2017
Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia
Nicholas T Olney, Carolina Alquezar, Eliana Marisa Ramos, et al.
Biological Psychiatry
|
May 21, 2018
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
Carolyn Le, Emanuela Argilli, Elizabeth George, et al.
Human Mutation
|
October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Ashley P L Marsh, Timothy J Edwards, Charles Galea, et al.
Endocrinology
|
August 5, 2015
Life-Long Implications of Developmental Exposure to Environmental Stressors: New Perspectives
Philippe Grandjean, Robert Barouki, David C Bellinger, et al.
Human Mutation
|
January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variants
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
American Journal of Human Genetics
|
April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Brieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Plos Genetics
|
May 29, 2007
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, et al.
Page
of 29