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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Nature Communications
|
November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
American Journal of Human Genetics
|
December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
Pascale Sabeh, Samantha A Dumas, Claudia Maios, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
American Journal of Human Genetics
|
February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Journal of Medical Genetics
|
December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
American Journal of Human Genetics
|
June 13, 2003
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder
Ricardo Segurado, Sevilla D Detera-Wadleigh, Douglas F Levinson, et al.
Developmental Cognitive Neuroscience
|
July 19, 2024
UNITY: A low-field magnetic resonance neuroimaging initiative to characterize neurodevelopment in low and middle-income settings
F Abate, A Adu-Amankwah, K A Ae-Ngibise, et al.
Nature
|
September 23, 2022
Publisher Correction: Brain charts for the human lifespan
R A I Bethlehem, J Seidlitz, S R White, et al.
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Search research articles
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Showing results (751-760 of 761) with videos related to
Sort By:
Page
of 77
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Nature Communications
|
November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
American Journal of Human Genetics
|
December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
Pascale Sabeh, Samantha A Dumas, Claudia Maios, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
American Journal of Human Genetics
|
February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Journal of Medical Genetics
|
December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
American Journal of Human Genetics
|
June 13, 2003
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder
Ricardo Segurado, Sevilla D Detera-Wadleigh, Douglas F Levinson, et al.
Developmental Cognitive Neuroscience
|
July 19, 2024
UNITY: A low-field magnetic resonance neuroimaging initiative to characterize neurodevelopment in low and middle-income settings
F Abate, A Adu-Amankwah, K A Ae-Ngibise, et al.
Nature
|
September 23, 2022
Publisher Correction: Brain charts for the human lifespan
R A I Bethlehem, J Seidlitz, S R White, et al.
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of 77