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Elise Schaefer

Showing results (31-40 of 102) with videos related to

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European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Life Science Alliance|January 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceMira Brazane, Dilyana G Dimitrova, Julien Pigeon, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
Journal of the American Society of Nephrology : JASN|June 2, 2017
Targeted Exome Sequencing Identifies <i>PBX1</i> as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractLaurence Heidet, Vincent Morinière, Charline Henry, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, 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.
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Pageof 11

Showing results (31-40 of 102) with videos related to

Sort By:
Pageof 11
European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Life Science Alliance|January 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceMira Brazane, Dilyana G Dimitrova, Julien Pigeon, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
Journal of the American Society of Nephrology : JASN|June 2, 2017
Targeted Exome Sequencing Identifies <i>PBX1</i> as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractLaurence Heidet, Vincent Morinière, Charline Henry, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, 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.
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Pageof 11