Search research articles
Contact Us
Filters
Showing results (131-140 of 270) with videos related to
Page
of 27
Sort By:
Brain : a Journal of Neurology
|
November 20, 2016
De novo GABRG2 mutations associated with epileptic encephalopathies
Dingding Shen, Ciria C Hernandez, Wangzhen Shen, et al.
Epilepsia
|
January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
Hiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
Russell Gear, Paul Kalitsis, Melissa Glass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2025
Clinical signatures of SYNGAP1-related disorders through data integration
Jillian L McKee, Jan H Magielski, Julie Xian, et al.
Epilepsy Research
|
August 9, 2019
Genetic heterogeneity in infantile spasms
Alison M Muir, Candace T Myers, Nancy T Nguyen, et al.
Brain : a Journal of Neurology
|
November 28, 2023
Delineating clinical and developmental outcomes in STXBP1-related disorders
Julie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
American Journal of Human Genetics
|
August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
Peter D Galer, Shiva Ganesan, David Lewis-Smith, et al.
Human Mutation
|
April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
Alexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Neurology
|
June 11, 2020
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic
Salvatore C Rametta, Sara E Fridinger, Alexander K Gonzalez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Page
of 27
Search research articles
Search
Showing results (131-140 of 270) with videos related to
Sort By:
Page
of 27
Brain : a Journal of Neurology
|
November 20, 2016
De novo GABRG2 mutations associated with epileptic encephalopathies
Dingding Shen, Ciria C Hernandez, Wangzhen Shen, et al.
Epilepsia
|
January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
Hiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
Russell Gear, Paul Kalitsis, Melissa Glass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2025
Clinical signatures of SYNGAP1-related disorders through data integration
Jillian L McKee, Jan H Magielski, Julie Xian, et al.
Epilepsy Research
|
August 9, 2019
Genetic heterogeneity in infantile spasms
Alison M Muir, Candace T Myers, Nancy T Nguyen, et al.
Brain : a Journal of Neurology
|
November 28, 2023
Delineating clinical and developmental outcomes in STXBP1-related disorders
Julie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
American Journal of Human Genetics
|
August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
Peter D Galer, Shiva Ganesan, David Lewis-Smith, et al.
Human Mutation
|
April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
Alexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Neurology
|
June 11, 2020
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic
Salvatore C Rametta, Sara E Fridinger, Alexander K Gonzalez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Page
of 27