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M Mannens

Showing results (141-150 of 172) with videos related to

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European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Birth Defects Research|February 9, 2023
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and CuraçaoEline A Verberne, Shirley M Lo-A-Njoe, Manon van Ginkel, et al.
BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.
Molecular Genetics and Metabolism|July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patientsC E M Hollak, E S V de Sonnaville, D Cassiman, et al.
Nature Genetics|November 26, 2009
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humansMarielle Alders, Benjamin M Hogan, Evisa Gjini, et al.
Frontiers in Genetics|June 4, 2026
Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classificationLiselot van der Laan, Amanda Luijckx, Shirley Lo-A-Njoe, et al.
Circulation|March 29, 2006
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathyJ Peter van Tintelen, Mark M Entius, Zahurul A Bhuiyan, et al.
BMJ Open|March 25, 2014
Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM studyCharles Agyemang, Erik Beune, Karlijn Meeks, et al.
Nature Genetics|July 15, 2014
Mutations in ZBTB20 cause Primrose syndromeViviana Cordeddu, Bert Redeker, Emilia Stellacci, et al.
Pageof 18

Showing results (141-150 of 172) with videos related to

Sort By:
Pageof 18
European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Birth Defects Research|February 9, 2023
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and CuraçaoEline A Verberne, Shirley M Lo-A-Njoe, Manon van Ginkel, et al.
BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.
Molecular Genetics and Metabolism|July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patientsC E M Hollak, E S V de Sonnaville, D Cassiman, et al.
Nature Genetics|November 26, 2009
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humansMarielle Alders, Benjamin M Hogan, Evisa Gjini, et al.
Frontiers in Genetics|June 4, 2026
Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classificationLiselot van der Laan, Amanda Luijckx, Shirley Lo-A-Njoe, et al.
Circulation|March 29, 2006
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathyJ Peter van Tintelen, Mark M Entius, Zahurul A Bhuiyan, et al.
BMJ Open|March 25, 2014
Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM studyCharles Agyemang, Erik Beune, Karlijn Meeks, et al.
Nature Genetics|July 15, 2014
Mutations in ZBTB20 cause Primrose syndromeViviana Cordeddu, Bert Redeker, Emilia Stellacci, et al.
Pageof 18