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American Journal of Human Genetics
|
December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Nature Genetics
|
July 30, 2015
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Journal of the National Cancer Institute
|
December 6, 2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, et al.
Brain : a Journal of Neurology
|
September 4, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
Page
of 23
Search research articles
Search
Showing results (221-230 of 228) with videos related to
Sort By:
Page
of 23
You have reached the last page of results.
This site can display upto 228 results.
American Journal of Human Genetics
|
December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Nature Genetics
|
May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Nature Genetics
|
July 30, 2015
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Ya-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Journal of the National Cancer Institute
|
December 6, 2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, et al.
Brain : a Journal of Neurology
|
September 4, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
Page
of 23