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Diane Beysen

Showing results (11-20 of 28) with videos related to

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Pediatric Endocrinology Reviews : PER|October 7, 2005
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunctionElfride De Baere, Silvia Copelli, Sandrine Caburet, et al.
Pediatric Neurology|August 30, 2024
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric StudyLiene Thys, Diane Beysen, Berten Ceulemans, et al.
Frontiers in Neurology|May 10, 2021
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an ExampleDiane Beysen, Chania De Cordt, Charlotte Dielman, et al.
Frontiers in Genetics|March 3, 2020
Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and SyndactylyKatrien Stouffs, Patrick Verloo, Stefanie Brock, et al.
Molecular Genetics and Metabolism|October 29, 2025
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesiaLiene Thys, Diane Beysen, Katrien Janssens, et al.
American Journal of Human Genetics|June 15, 2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaFrauke Coppieters, Bart P Leroy, Diane Beysen, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|January 8, 2022
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null VariantsIlona Krey, Sarah von Spiczak, Kathrine M Johannesen, et al.
Plos Genetics|March 22, 2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domainHannah Verdin, Barbara D'haene, Diane Beysen, et al.
Blood|July 16, 2025
A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variantsSophie Hordijk, Stijn A Groten, Petra E Bürgisser, et al.
Plos Genetics|June 23, 2009
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screeningBarbara D'haene, Catia Attanasio, Diane Beysen, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Pediatric Endocrinology Reviews : PER|October 7, 2005
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunctionElfride De Baere, Silvia Copelli, Sandrine Caburet, et al.
Pediatric Neurology|August 30, 2024
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric StudyLiene Thys, Diane Beysen, Berten Ceulemans, et al.
Frontiers in Neurology|May 10, 2021
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an ExampleDiane Beysen, Chania De Cordt, Charlotte Dielman, et al.
Frontiers in Genetics|March 3, 2020
Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and SyndactylyKatrien Stouffs, Patrick Verloo, Stefanie Brock, et al.
Molecular Genetics and Metabolism|October 29, 2025
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesiaLiene Thys, Diane Beysen, Katrien Janssens, et al.
American Journal of Human Genetics|June 15, 2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaFrauke Coppieters, Bart P Leroy, Diane Beysen, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|January 8, 2022
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null VariantsIlona Krey, Sarah von Spiczak, Kathrine M Johannesen, et al.
Plos Genetics|March 22, 2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domainHannah Verdin, Barbara D'haene, Diane Beysen, et al.
Blood|July 16, 2025
A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variantsSophie Hordijk, Stijn A Groten, Petra E Bürgisser, et al.
Plos Genetics|June 23, 2009
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screeningBarbara D'haene, Catia Attanasio, Diane Beysen, et al.
Pageof 3