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Brain : a Journal of Neurology
|
October 23, 2021
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
Joseph D Symonds, Katherine S Elliott, Jay Shetty, et al.
Genes & Development
|
June 2, 2017
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis
Carol-Anne Martin, Jennie E Murray, Paula Carroll, et al.
Epilepsia
|
February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Genes & Development
|
October 15, 2016
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Carol-Anne Martin, Jennie E Murray, Paula Carroll, 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.
American Journal of Medical Genetics. Part A
|
September 27, 2016
Clinical and genetic aspects of KBG syndrome
Karen Low, Tazeen Ashraf, Natalie Canham, et al.
Genome Medicine
|
July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
Frontiers in Neurology
|
November 30, 2019
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care
Nicholas M P Annear, Richard E Appleton, Zahabiyah Bassi, et al.
Journal of Medical Genetics
|
October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, et al.
Clinical Genetics
|
March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Page
of 8
Search research articles
Search
Showing results (31-40 of 78) with videos related to
Sort By:
Page
of 8
Brain : a Journal of Neurology
|
October 23, 2021
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
Joseph D Symonds, Katherine S Elliott, Jay Shetty, et al.
Genes & Development
|
June 2, 2017
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis
Carol-Anne Martin, Jennie E Murray, Paula Carroll, et al.
Epilepsia
|
February 7, 2017
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, et al.
Genes & Development
|
October 15, 2016
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Carol-Anne Martin, Jennie E Murray, Paula Carroll, 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.
American Journal of Medical Genetics. Part A
|
September 27, 2016
Clinical and genetic aspects of KBG syndrome
Karen Low, Tazeen Ashraf, Natalie Canham, et al.
Genome Medicine
|
July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
Frontiers in Neurology
|
November 30, 2019
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care
Nicholas M P Annear, Richard E Appleton, Zahabiyah Bassi, et al.
Journal of Medical Genetics
|
October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, et al.
Clinical Genetics
|
March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Page
of 8