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Koen Devriendt

Showing results (171-180 of 183) with videos related to

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European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
American Journal of Human Genetics|March 5, 2013
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromesMaria Delio, Tingwei Guo, Donna M McDonald-McGinn, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
American Journal of Obstetrics and Gynecology|September 17, 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of ageLindsay R Freud, Stephanie Galloway, T Blaine Crowley, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.
American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
American Journal of Human Genetics|August 8, 2025
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
Pageof 19

Showing results (171-180 of 183) with videos related to

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Pageof 19
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
American Journal of Human Genetics|March 5, 2013
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromesMaria Delio, Tingwei Guo, Donna M McDonald-McGinn, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
American Journal of Obstetrics and Gynecology|September 17, 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of ageLindsay R Freud, Stephanie Galloway, T Blaine Crowley, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.
American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
American Journal of Human Genetics|August 8, 2025
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
Pageof 19