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Epilepsia
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March 24, 2023
Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection
Isabel Silveira, Mark F Bennett
Emerging Topics in Life Sciences
|
September 21, 2023
Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future
Haloom Rafehi, Mark F Bennett, Melanie Bahlo
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 19, 2023
Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data
Liam G Fearnley, Haloom Rafehi, Mark F Bennett, et al.
American Journal of Human Genetics
|
December 4, 2018
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
Rick M Tankard, Mark F Bennett, Peter Degorski, et al.
F1000Research
|
June 28, 2018
Recent advances in the detection of repeat expansions with short-read next-generation sequencing
Melanie Bahlo, Mark F Bennett, Peter Degorski, et al.
Epilepsia
|
February 22, 2023
Genes4Epilepsy: An epilepsy gene resource
Karen L Oliver, Ingrid E Scheffer, Mark F Bennett, et al.
Expert Review of Neurotherapeutics
|
September 14, 2021
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies
Zimeng Ye, Mark F Bennett, Melanie Bahlo, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
Timothy E Green, Mareike Schimmel, Susanna Schubert, et al.
European Journal of Human Genetics : EJHG
|
September 25, 2020
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
Patra Yeetong, Chaipat Chunharas, Monnat Pongpanich, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2017
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
Kenneth A Myers, Mark F Bennett, Chung W Chow, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 56) with videos related to
Sort By:
Page
of 6
Epilepsia
|
March 24, 2023
Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection
Isabel Silveira, Mark F Bennett
Emerging Topics in Life Sciences
|
September 21, 2023
Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future
Haloom Rafehi, Mark F Bennett, Melanie Bahlo
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 19, 2023
Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data
Liam G Fearnley, Haloom Rafehi, Mark F Bennett, et al.
American Journal of Human Genetics
|
December 4, 2018
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
Rick M Tankard, Mark F Bennett, Peter Degorski, et al.
F1000Research
|
June 28, 2018
Recent advances in the detection of repeat expansions with short-read next-generation sequencing
Melanie Bahlo, Mark F Bennett, Peter Degorski, et al.
Epilepsia
|
February 22, 2023
Genes4Epilepsy: An epilepsy gene resource
Karen L Oliver, Ingrid E Scheffer, Mark F Bennett, et al.
Expert Review of Neurotherapeutics
|
September 14, 2021
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies
Zimeng Ye, Mark F Bennett, Melanie Bahlo, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
Timothy E Green, Mareike Schimmel, Susanna Schubert, et al.
European Journal of Human Genetics : EJHG
|
September 25, 2020
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
Patra Yeetong, Chaipat Chunharas, Monnat Pongpanich, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2017
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
Kenneth A Myers, Mark F Bennett, Chung W Chow, et al.
Page
of 6