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Showing results (201-210 of 223) with videos related to

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Clinical Dysmorphology|August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisEnrika Bartels, Anna C Schulz, Nicole W Mora, et al.
European Heart Journal|April 5, 2011
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategyImke Christiaans, Erwin Birnie, Gouke J Bonsel, et al.
The New Phytologist|December 29, 2025
Revisiting the relationship between stomatal size and speed across species - a meta-analysisNik Woning, Yazen Al-Salman, Elias Kaiser, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromesNuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, et al.
European Heart Journal|October 27, 2015
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriersGodelieve R F Claes, Florence H J van Tienen, Patrick Lindsey, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Pageof 23

Showing results (201-210 of 223) with videos related to

Sort By:
Pageof 23
Clinical Dysmorphology|August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisEnrika Bartels, Anna C Schulz, Nicole W Mora, et al.
European Heart Journal|April 5, 2011
Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategyImke Christiaans, Erwin Birnie, Gouke J Bonsel, et al.
The New Phytologist|December 29, 2025
Revisiting the relationship between stomatal size and speed across species - a meta-analysisNik Woning, Yazen Al-Salman, Elias Kaiser, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromesNuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, et al.
European Heart Journal|October 27, 2015
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriersGodelieve R F Claes, Florence H J van Tienen, Patrick Lindsey, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Pageof 23