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Koen Devriendt

Showing results (141-150 of 183) with videos related to

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Nature Communications|June 3, 2026
Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopmentLisa Hamerlinck, Eva D'haene, Michael B Vaughan, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Pageof 19

Showing results (141-150 of 183) with videos related to

Sort By:
Pageof 19
Nature Communications|June 3, 2026
Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopmentLisa Hamerlinck, Eva D'haene, Michael B Vaughan, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.
European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Pageof 19