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Carlo L Marcelis

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Clinical Dysmorphology|March 14, 2007
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblingsCarlo L Marcelis, Paul Rieu, Frits Beemer, et al.
Journal of Child Neurology|March 13, 2015
Two Siblings With a CDKL5 Mutation: Genotype and Phenotype EvaluationEveline E O Hagebeuk, Carlo L Marcelis, Mariëlle Alders, et al.
Journal of the American College of Cardiology|March 26, 2003
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathyRoselie J Jongbloed, Carlo L Marcelis, Pieter A Doevendans, et al.
European Journal of Medical Genetics|June 15, 2016
Duplications of SLC1A3: Associated with ADHD and autismClaudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2010
Complete COL1A1 allele deletions in osteogenesis imperfectaFleur S van Dijk, Margriet Huizer, Ariana Kariminejad, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignanciesWei Shen, Jennifer M Heeley, Colleen M Carlston, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Science (New York, N.Y.)|June 3, 2017
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replicationPavithra L Chavali, Lovorka Stojic, Luke W Meredith, et al.
Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Clinical Dysmorphology|March 14, 2007
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblingsCarlo L Marcelis, Paul Rieu, Frits Beemer, et al.
Journal of Child Neurology|March 13, 2015
Two Siblings With a CDKL5 Mutation: Genotype and Phenotype EvaluationEveline E O Hagebeuk, Carlo L Marcelis, Mariëlle Alders, et al.
Journal of the American College of Cardiology|March 26, 2003
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathyRoselie J Jongbloed, Carlo L Marcelis, Pieter A Doevendans, et al.
European Journal of Medical Genetics|June 15, 2016
Duplications of SLC1A3: Associated with ADHD and autismClaudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2010
Complete COL1A1 allele deletions in osteogenesis imperfectaFleur S van Dijk, Margriet Huizer, Ariana Kariminejad, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignanciesWei Shen, Jennifer M Heeley, Colleen M Carlston, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
Science (New York, N.Y.)|June 3, 2017
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replicationPavithra L Chavali, Lovorka Stojic, Luke W Meredith, et al.
Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
Pageof 2