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Carlo Marcelis

Showing results (11-20 of 55) with videos related to

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Orphanet Journal of Rare Diseases|June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationMarianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
JACC. Case Reports|July 28, 2021
Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric PatientRob W Roudijk, Reinder Evertz, Arco J Teske, et al.
Neurosurgery|April 28, 2006
The Currarino triad: neurosurgical considerationsPieter J Emans, Jasper van Aalst, Ernest L W van Heurn, et al.
American Journal of Medical Genetics. Part A|May 3, 2021
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiencyBram C F Veldman, Willemijn F E Kuper, Marc Lilien, et al.
European Journal of Human Genetics : EJHG|December 23, 2022
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsyJohannes Luppe, Heinrich Sticht, François Lecoquierre, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Journal of Medical Genetics|July 4, 2018
Novel pathogenic <i>SMAD2</i> variants in five families with arterial aneurysm and dissection: further delineation of the phenotypeElyssa Cannaerts, Marlies Kempers, Alessandra Maugeri, et al.
HGG Advances|May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformationElke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
BMC Medical Genetics|May 4, 2016
CNV analysis in 169 patients with bladder exstrophy-epispadias complexCatharina von Lowtzow, Andrea Hofmann, Rong Zhang, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Pageof 6

Showing results (11-20 of 55) with videos related to

Sort By:
Pageof 6
Orphanet Journal of Rare Diseases|June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationMarianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
JACC. Case Reports|July 28, 2021
Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric PatientRob W Roudijk, Reinder Evertz, Arco J Teske, et al.
Neurosurgery|April 28, 2006
The Currarino triad: neurosurgical considerationsPieter J Emans, Jasper van Aalst, Ernest L W van Heurn, et al.
American Journal of Medical Genetics. Part A|May 3, 2021
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiencyBram C F Veldman, Willemijn F E Kuper, Marc Lilien, et al.
European Journal of Human Genetics : EJHG|December 23, 2022
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsyJohannes Luppe, Heinrich Sticht, François Lecoquierre, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
Journal of Medical Genetics|July 4, 2018
Novel pathogenic <i>SMAD2</i> variants in five families with arterial aneurysm and dissection: further delineation of the phenotypeElyssa Cannaerts, Marlies Kempers, Alessandra Maugeri, et al.
HGG Advances|May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformationElke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
BMC Medical Genetics|May 4, 2016
CNV analysis in 169 patients with bladder exstrophy-epispadias complexCatharina von Lowtzow, Andrea Hofmann, Rong Zhang, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
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