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Brain and Behavior
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May 12, 2025
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire
Karen J Low, Moira Walker, Georgia Treneman-Evans, et al.
Molecules (Basel, Switzerland)
|
July 14, 2023
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo <sup>1</sup>H-NMR Analysis
Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, et al.
Clinical Genetics
|
December 1, 2022
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
Carolina Alvarez, Mona Grimmel, Darius Ebrahimi-Fakhari, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 30, 2022
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
Claudia M Bonardi, Allan Bayat, Camilla Gøbel Madsen, et al.
Clinical Genetics
|
November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review
Emilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
Disease Models & Mechanisms
|
July 20, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders
Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, et al.
Biorxiv : the Preprint Server for Biology
|
February 13, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder
Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, et al.
Cannabis and Cannabinoid Research
|
March 2, 2023
Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy
Antonella Riva, Gianluca D'Onofrio, Angelica Pisati, et al.
Neurology. Genetics
|
November 27, 2024
Adult Phenotype of <i>CHD2</i>-Associated Disorders
Marlene Rong, Quratulain Zulfiqar Ali, Angel Aledo-Serrano, et al.
European Journal of Medical Genetics
|
September 21, 2022
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Sabrina Neri, Nuno Maia, Ana M Fortuna, et al.
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Search research articles
Search
Showing results (41-50 of 130) with videos related to
Sort By:
Page
of 13
Brain and Behavior
|
May 12, 2025
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire
Karen J Low, Moira Walker, Georgia Treneman-Evans, et al.
Molecules (Basel, Switzerland)
|
July 14, 2023
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo <sup>1</sup>H-NMR Analysis
Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, et al.
Clinical Genetics
|
December 1, 2022
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
Carolina Alvarez, Mona Grimmel, Darius Ebrahimi-Fakhari, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 30, 2022
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
Claudia M Bonardi, Allan Bayat, Camilla Gøbel Madsen, et al.
Clinical Genetics
|
November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review
Emilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
Disease Models & Mechanisms
|
July 20, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders
Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, et al.
Biorxiv : the Preprint Server for Biology
|
February 13, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder
Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, et al.
Cannabis and Cannabinoid Research
|
March 2, 2023
Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy
Antonella Riva, Gianluca D'Onofrio, Angelica Pisati, et al.
Neurology. Genetics
|
November 27, 2024
Adult Phenotype of <i>CHD2</i>-Associated Disorders
Marlene Rong, Quratulain Zulfiqar Ali, Angel Aledo-Serrano, et al.
European Journal of Medical Genetics
|
September 21, 2022
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Sabrina Neri, Nuno Maia, Ana M Fortuna, et al.
Page
of 13