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The Lancet. Psychiatry
|
August 6, 2022
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, et al.
European Journal of Pediatrics
|
January 4, 2014
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Alex Habel, Richard Herriot, Dinakantha Kumararatne, et al.
The Journal of Clinical Investigation
|
February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
Kate Baker, Sarah L Gordon, Detelina Grozeva, et al.
Frontiers in Microbiology
|
August 16, 2021
Temporal, Spatial, and Genomic Analyses of <i>Enterobacteriaceae</i> Clinical Antimicrobial Resistance in Companion Animals Reveals Phenotypes and Genotypes of One Health Concern
David A Singleton, Pisut Pongchaikul, Shirley Smith, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
October 11, 2024
Early mortality in STXBP1-related disorders
Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, et al.
Molecular Genetics & Genomic Medicine
|
September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>
Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Scientific Reports
|
September 7, 2019
Postnatal Zika virus infection of nonhuman primate infants born to mothers infected with homologous Brazilian Zika virus
Nicholas J Maness, Blake Schouest, Anil Singapuri, et al.
Nature Communications
|
December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
Elizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
Brain : a Journal of Neurology
|
August 15, 2018
SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland, et al.
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of 9
Search research articles
Search
Showing results (71-80 of 83) with videos related to
Sort By:
Page
of 9
The Lancet. Psychiatry
|
August 6, 2022
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, et al.
European Journal of Pediatrics
|
January 4, 2014
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Alex Habel, Richard Herriot, Dinakantha Kumararatne, et al.
The Journal of Clinical Investigation
|
February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
Kate Baker, Sarah L Gordon, Detelina Grozeva, et al.
Frontiers in Microbiology
|
August 16, 2021
Temporal, Spatial, and Genomic Analyses of <i>Enterobacteriaceae</i> Clinical Antimicrobial Resistance in Companion Animals Reveals Phenotypes and Genotypes of One Health Concern
David A Singleton, Pisut Pongchaikul, Shirley Smith, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
October 11, 2024
Early mortality in STXBP1-related disorders
Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, et al.
Molecular Genetics & Genomic Medicine
|
September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>
Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Scientific Reports
|
September 7, 2019
Postnatal Zika virus infection of nonhuman primate infants born to mothers infected with homologous Brazilian Zika virus
Nicholas J Maness, Blake Schouest, Anil Singapuri, et al.
Nature Communications
|
December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
Elizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.
Brain : a Journal of Neurology
|
August 15, 2018
SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland, et al.
Page
of 9