Search research articles
Contact Us
Filters
Showing results (21-30 of 63) with videos related to
Page
of 7
Sort By:
European Journal of Medical Genetics
|
November 5, 2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
Laura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, et al.
European Journal of Human Genetics : EJHG
|
January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.
Cell
|
November 20, 2025
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants
Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk, et al.
HGG Advances
|
September 29, 2025
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots, et al.
American Journal of Human Genetics
|
September 4, 2012
RTTN mutations link primary cilia function to organization of the human cerebral cortex
Sima Kheradmand Kia, Elly Verbeek, Erik Engelen, et al.
Experimental Neurology
|
February 13, 2017
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice
Stijn Stroobants, Nathalie G G Van Acker, Frans W Verheijen, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
COL4A2 mutation associated with familial porencephaly and small-vessel disease
Elly Verbeek, Marije E C Meuwissen, Frans W Verheijen, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in males
Renske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Medical Genetics. Part A
|
May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Philip Harrer, Volker Kittke, Alice Saparov, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 63) with videos related to
Sort By:
Page
of 7
European Journal of Medical Genetics
|
November 5, 2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
Laura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, et al.
European Journal of Human Genetics : EJHG
|
January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.
Cell
|
November 20, 2025
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants
Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk, et al.
HGG Advances
|
September 29, 2025
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots, et al.
American Journal of Human Genetics
|
September 4, 2012
RTTN mutations link primary cilia function to organization of the human cerebral cortex
Sima Kheradmand Kia, Elly Verbeek, Erik Engelen, et al.
Experimental Neurology
|
February 13, 2017
Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice
Stijn Stroobants, Nathalie G G Van Acker, Frans W Verheijen, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
COL4A2 mutation associated with familial porencephaly and small-vessel disease
Elly Verbeek, Marije E C Meuwissen, Frans W Verheijen, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2013
Novel no-stop FLNA mutation causes multi-organ involvement in males
Renske Oegema, Jessie M Hulst, Sabine D M Theuns-Valks, et al.
American Journal of Medical Genetics. Part A
|
May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Philip Harrer, Volker Kittke, Alice Saparov, et al.
Page
of 7