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Carlo Marcelis

Showing results (21-30 of 55) with videos related to

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Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Plos Genetics|September 21, 2011
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceLisenka E L M Vissers, Timothy C Cox, A Murat Maga, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformationsGabriel C Dworschak, Markus Draaken, Carlo Marcelis, et al.
Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.
Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Circulation. Genomic and Precision Medicine|September 30, 2022
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk StratificationMarijke H van der Meulen, Johanna C Herkert, Susanna L den Boer, et al.
Pageof 6

Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Plos Genetics|September 21, 2011
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceLisenka E L M Vissers, Timothy C Cox, A Murat Maga, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformationsGabriel C Dworschak, Markus Draaken, Carlo Marcelis, et al.
Brain : a Journal of Neurology|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial featuresTamar Harel, Camille Spicher, Elisabeth Scheer, et al.
Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.
Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Circulation. Genomic and Precision Medicine|September 30, 2022
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk StratificationMarijke H van der Meulen, Johanna C Herkert, Susanna L den Boer, et al.
Pageof 6