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Yline Capri

Showing results (31-40 of 93) with videos related to

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Neurology. Genetics|March 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> GeneClarisse Gins, Fabien Guimiot, Séverine Drunat, et al.
Orphanet Journal of Rare Diseases|April 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewDidier Bessis, Dominique Vidaud, Pierre Meyer, et al.
European Journal of Endocrinology|February 24, 2016
Growth patterns of patients with Noonan syndrome: correlation with age and genotypeCatie Cessans, Virginie Ehlinger, Catherine Arnaud, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Medrxiv : the Preprint Server for Health Sciences|July 14, 2025
Loss of function variants in <i>ADAMTS6</i> : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Haematologica|November 20, 2023
Germline bi-allelic <i>SH2B3/LNK</i> alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorderChloé Arfeuille, Yoann Vial, Margaux Cadenet, et al.
European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Pageof 10

Showing results (31-40 of 93) with videos related to

Sort By:
Pageof 10
Neurology. Genetics|March 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> GeneClarisse Gins, Fabien Guimiot, Séverine Drunat, et al.
Orphanet Journal of Rare Diseases|April 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewDidier Bessis, Dominique Vidaud, Pierre Meyer, et al.
European Journal of Endocrinology|February 24, 2016
Growth patterns of patients with Noonan syndrome: correlation with age and genotypeCatie Cessans, Virginie Ehlinger, Catherine Arnaud, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Medrxiv : the Preprint Server for Health Sciences|July 14, 2025
Loss of function variants in <i>ADAMTS6</i> : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Haematologica|November 20, 2023
Germline bi-allelic <i>SH2B3/LNK</i> alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorderChloé Arfeuille, Yoann Vial, Margaux Cadenet, et al.
European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Pageof 10