Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Koenraad Devriendt

Showing results (71-80 of 190) with videos related to

Pageof 19
Sort By:
European Journal of Medical Genetics|February 4, 2014
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese familyAimé Lumaka, Gerrye Mubungu, Papino Mukaba, et al.
Journal of Speech, Language, and Hearing Research : JSLHR|June 2, 2016
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion SyndromeCharlotte Van Eynde, Ann Swillen, Elien Lambeens, et al.
European Journal of Medical Genetics|September 18, 2022
Molecular genetic characterization of Congolese patients with oculocutaneous albinismMavinga Mpola Laetitia, Kakiese Veronique, Ngole Zita Mamy, et al.
European Journal of Medical Genetics|February 11, 2018
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorderNele Cosemans, Laura Vandenhove, Jarymke Maljaars, et al.
Prenatal Diagnosis|February 18, 2021
What should we tell parents? Congenital diaphragmatic herniaFrancesca M Russo, Anne Debeer, Paolo De Coppi, et al.
Neurology|November 1, 2013
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathyInès Mademan, Tine Deconinck, Argirios Dinopoulos, et al.
Clinical Dysmorphology|April 5, 2019
Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndromeSébastien Mbuyi-Musanzayi, Eric I Kasamba, Nicole Revencu, et al.
Prenatal Diagnosis|November 11, 2010
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)Kasemsri Srisupundit, Paul D Brady, Koenraad Devriendt, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Growth pattern in Kabuki syndrome with a KMT2D mutationDina A Schott, Marinus J Blok, Willem J M Gerver, et al.
American Journal of Ophthalmology|March 1, 2011
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformationsIrina Balikova, Thomy de Ravel, Carmen Ayuso, et al.
Pageof 19

Showing results (71-80 of 190) with videos related to

Sort By:
Pageof 19
European Journal of Medical Genetics|February 4, 2014
A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese familyAimé Lumaka, Gerrye Mubungu, Papino Mukaba, et al.
Journal of Speech, Language, and Hearing Research : JSLHR|June 2, 2016
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion SyndromeCharlotte Van Eynde, Ann Swillen, Elien Lambeens, et al.
European Journal of Medical Genetics|September 18, 2022
Molecular genetic characterization of Congolese patients with oculocutaneous albinismMavinga Mpola Laetitia, Kakiese Veronique, Ngole Zita Mamy, et al.
European Journal of Medical Genetics|February 11, 2018
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorderNele Cosemans, Laura Vandenhove, Jarymke Maljaars, et al.
Prenatal Diagnosis|February 18, 2021
What should we tell parents? Congenital diaphragmatic herniaFrancesca M Russo, Anne Debeer, Paolo De Coppi, et al.
Neurology|November 1, 2013
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathyInès Mademan, Tine Deconinck, Argirios Dinopoulos, et al.
Clinical Dysmorphology|April 5, 2019
Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndromeSébastien Mbuyi-Musanzayi, Eric I Kasamba, Nicole Revencu, et al.
Prenatal Diagnosis|November 11, 2010
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)Kasemsri Srisupundit, Paul D Brady, Koenraad Devriendt, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Growth pattern in Kabuki syndrome with a KMT2D mutationDina A Schott, Marinus J Blok, Willem J M Gerver, et al.
American Journal of Ophthalmology|March 1, 2011
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformationsIrina Balikova, Thomy de Ravel, Carmen Ayuso, et al.
Pageof 19