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Diane Beysen

Showing results (1-10 of 28) with videos related to

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Journal of Clinical Immunology|December 6, 2022
ADA2 Deficiency Mimicking Acute Disseminated EncephalomyelitisLisa Ehlers, Giorgia Bucciol, , et al.
Human Mutation|August 30, 2008
FOXL2 mutations and genomic rearrangements in BPESDiane Beysen, Anne De Paepe, Elfride De Baere
Neuropediatrics|June 8, 2022
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two SiblingsLaura Claes, Kristof van Schil, Wendy Dewals, et al.
American Journal of Medical Genetics. Part A|August 19, 2023
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrumLiene Thys, Diane Beysen, Anna Jansen, et al.
Human Mutation|August 10, 2004
The human FOXL2 mutation databaseDiane Beysen, Jo Vandesompele, Ludwine Messiaen, et al.
European Journal of Medical Genetics|June 10, 2019
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosumSofie Demeulenaere, Diane Beysen, Ilse De Veuster, et al.
Human Molecular Genetics|March 29, 2008
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivationDiane Beysen, Lara Moumné, Reiner Veitia, et al.
Human Genetics|November 8, 2006
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunctionJeyabalan Nallathambi, Lara Moumné, Elfride De Baere, et al.
Pediatric Neurology|October 25, 2025
Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular EventsLiene Thys, Diane Beysen, Sandra Kenis, et al.
Clinical Genetics|October 22, 2024
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial GestaltJessica Rosenblum, Diane Beysen, Anna C Jansen, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
Journal of Clinical Immunology|December 6, 2022
ADA2 Deficiency Mimicking Acute Disseminated EncephalomyelitisLisa Ehlers, Giorgia Bucciol, , et al.
Human Mutation|August 30, 2008
FOXL2 mutations and genomic rearrangements in BPESDiane Beysen, Anne De Paepe, Elfride De Baere
Neuropediatrics|June 8, 2022
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two SiblingsLaura Claes, Kristof van Schil, Wendy Dewals, et al.
American Journal of Medical Genetics. Part A|August 19, 2023
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrumLiene Thys, Diane Beysen, Anna Jansen, et al.
Human Mutation|August 10, 2004
The human FOXL2 mutation databaseDiane Beysen, Jo Vandesompele, Ludwine Messiaen, et al.
European Journal of Medical Genetics|June 10, 2019
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosumSofie Demeulenaere, Diane Beysen, Ilse De Veuster, et al.
Human Molecular Genetics|March 29, 2008
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivationDiane Beysen, Lara Moumné, Reiner Veitia, et al.
Human Genetics|November 8, 2006
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunctionJeyabalan Nallathambi, Lara Moumné, Elfride De Baere, et al.
Pediatric Neurology|October 25, 2025
Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular EventsLiene Thys, Diane Beysen, Sandra Kenis, et al.
Clinical Genetics|October 22, 2024
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial GestaltJessica Rosenblum, Diane Beysen, Anna C Jansen, et al.
Pageof 3