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Carlo Marcelis

Showing results (1-10 of 55) with videos related to

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American Journal of Medical Genetics. Part A|October 13, 2011
Chromosomal anomalies in the etiology of anorectal malformations: a reviewCarlo Marcelis, Ivo de Blaauw, Han Brunner
Human Mutation|October 29, 2002
DHPLC analysis of potassium ion channel genes in congenital long QT syndromeRoselie Jongbloed, Carlo Marcelis, Crool Velter, et al.
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|December 15, 2021
Genetic Counseling and Diagnostics in Anorectal MalformationCarlo Marcelis, Gabriel Dworschak, Ivo de Blaauw, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndromeLiesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, et al.
European Journal of Human Genetics : EJHG|April 17, 2008
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manErnie Mhf Bongers, Ilse J de Wijs, Carlo Marcelis, et al.
BMC Research Notes|October 16, 2013
"This bicycle gives me a headache", a congenital anomalyHendt P Versteegh, Wout F J Feitz, Erik J van Lindert, et al.
Genes|April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original CasesCamille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.
European Journal of Medical Genetics|November 19, 2013
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12Robert Smigiel, Carlo Marcelis, Dariusz Patkowski, et al.
Clinical Dysmorphology|November 28, 2012
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3Bart C W Kuipers, Anneke T Vulto-van Silfhout, Carlo Marcelis, et al.
American Journal of Medical Genetics. Part A|July 22, 2025
Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson SyndromeBeril Ay, Ozlem Akgun-Dogan, Fulya Taylan, et al.
Pageof 6

Showing results (1-10 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|October 13, 2011
Chromosomal anomalies in the etiology of anorectal malformations: a reviewCarlo Marcelis, Ivo de Blaauw, Han Brunner
Human Mutation|October 29, 2002
DHPLC analysis of potassium ion channel genes in congenital long QT syndromeRoselie Jongbloed, Carlo Marcelis, Crool Velter, et al.
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|December 15, 2021
Genetic Counseling and Diagnostics in Anorectal MalformationCarlo Marcelis, Gabriel Dworschak, Ivo de Blaauw, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndromeLiesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, et al.
European Journal of Human Genetics : EJHG|April 17, 2008
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manErnie Mhf Bongers, Ilse J de Wijs, Carlo Marcelis, et al.
BMC Research Notes|October 16, 2013
"This bicycle gives me a headache", a congenital anomalyHendt P Versteegh, Wout F J Feitz, Erik J van Lindert, et al.
Genes|April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original CasesCamille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.
European Journal of Medical Genetics|November 19, 2013
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12Robert Smigiel, Carlo Marcelis, Dariusz Patkowski, et al.
Clinical Dysmorphology|November 28, 2012
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3Bart C W Kuipers, Anneke T Vulto-van Silfhout, Carlo Marcelis, et al.
American Journal of Medical Genetics. Part A|July 22, 2025
Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson SyndromeBeril Ay, Ozlem Akgun-Dogan, Fulya Taylan, et al.
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