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Elise Schaefer

Showing results (21-30 of 102) with videos related to

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Clinical Genetics|December 3, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French CohortMarion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, et al.
European Journal of Medical Genetics|January 25, 2020
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrumBenjamin Durand, Corinne Stoetzel, Elise Schaefer, et al.
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.
Fetal Diagnosis and Therapy|November 18, 2014
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009Dana Timbolschi, Elise Schaefer, Bondo Monga, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisFrancesca Mattioli, Elise Schaefer, Alex Magee, et al.
Clinical Genetics|January 28, 2021
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotypeAuriane Cospain, Elise Schaefer, Marie Faoucher, et al.
Pediatric Pulmonology|August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected childrenKatharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
Pageof 11

Showing results (21-30 of 102) with videos related to

Sort By:
Pageof 11
Clinical Genetics|December 3, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French CohortMarion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, et al.
European Journal of Medical Genetics|January 25, 2020
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrumBenjamin Durand, Corinne Stoetzel, Elise Schaefer, et al.
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.
Fetal Diagnosis and Therapy|November 18, 2014
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009Dana Timbolschi, Elise Schaefer, Bondo Monga, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisFrancesca Mattioli, Elise Schaefer, Alex Magee, et al.
Clinical Genetics|January 28, 2021
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotypeAuriane Cospain, Elise Schaefer, Marie Faoucher, et al.
Pediatric Pulmonology|August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected childrenKatharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
Pageof 11