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Kathelijn Keymolen

Showing results (31-40 of 61) with videos related to

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Clinical Case Reports|December 17, 2021
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN geneClaire Balza, Giulia Garofalo, Teresa Cos, et al.
Prenatal Diagnosis|December 23, 2004
Post-zygotic origin of isochromosome 12pThomy J L de Ravel, Kathelijn Keymolen, Elvire van Assche, et al.
European Journal of Medical Genetics|June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformationsKatrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, et al.
Prenatal Diagnosis|January 17, 2026
Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the LiteratureNathalie Vanden Eynde, Ileen Slegers, Elise Vantroys, et al.
European Journal of Human Genetics : EJHG|June 4, 2015
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathiesVéronique Bissay, Sophie C H Van Malderen, Kathelijn Keymolen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Observations on intelligence and behavior in 15 patients with Legius syndromeEllen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, et al.
American Journal of Medical Genetics. Part A|April 14, 2009
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qterMaria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, et al.
Neuromuscular Disorders : NMD|December 24, 2005
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IVNathalie Verpoorten, Kristl G Claeys, Liesbet Deprez, et al.
Journal of Assisted Reproduction and Genetics|May 16, 2024
A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangementsAnnelore Van Der Kelen, Kathelijn Keymolen, Wilfried Cools, et al.
Pageof 7

Showing results (31-40 of 61) with videos related to

Sort By:
Pageof 7
Clinical Case Reports|December 17, 2021
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN geneClaire Balza, Giulia Garofalo, Teresa Cos, et al.
Prenatal Diagnosis|December 23, 2004
Post-zygotic origin of isochromosome 12pThomy J L de Ravel, Kathelijn Keymolen, Elvire van Assche, et al.
European Journal of Medical Genetics|June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformationsKatrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, et al.
Prenatal Diagnosis|January 17, 2026
Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the LiteratureNathalie Vanden Eynde, Ileen Slegers, Elise Vantroys, et al.
European Journal of Human Genetics : EJHG|June 4, 2015
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathiesVéronique Bissay, Sophie C H Van Malderen, Kathelijn Keymolen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Observations on intelligence and behavior in 15 patients with Legius syndromeEllen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, et al.
American Journal of Medical Genetics. Part A|April 14, 2009
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qterMaria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, et al.
Neuromuscular Disorders : NMD|December 24, 2005
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IVNathalie Verpoorten, Kristl G Claeys, Liesbet Deprez, et al.
Journal of Assisted Reproduction and Genetics|May 16, 2024
A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangementsAnnelore Van Der Kelen, Kathelijn Keymolen, Wilfried Cools, et al.
Pageof 7