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Yline Capri

Showing results (1-10 of 93) with videos related to

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American Journal of Medical Genetics. Part A|July 20, 2012
Pseudoaminopterin syndromeLilia Kraoua, Yline Capri, Laurence Perrin, et al.
European Journal of Medical Genetics|February 22, 2011
A familial syndromal form of omphaloceleMarylin Port-Lis, Camille Leroy, Sylvie Manouvrier, et al.
Prenatal Diagnosis|June 8, 2012
Prenatal phenotype of congenital hyperparathyroidismEmmanuel Spaggiari, Margot Bucau, Yline Capri, et al.
Clinical Genetics|July 11, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathyYline Capri, Lucas Bourmance, Céline Dupont, et al.
European Journal of Medical Genetics|January 23, 2013
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic featuresCéline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, et al.
Clinical Genetics|February 6, 2020
LEF1 haploinsufficiency causes ectodermal dysplasiaJonathan Lévy, Yline Capri, Myriam Rachid, et al.
European Journal of Medical Genetics|January 22, 2019
Oligo-astrocytoma in LZTR1-related Noonan syndromeAdeline Jacquinet, Adeline Bonnard, Yline Capri, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplicationJérôme Rambaud, Isabelle Marey, Céline Dupont, et al.
European Journal of Medical Genetics|September 2, 2021
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literatureMarion Lesieur-Sebellin, Yline Capri, Margot Grisval, et al.
European Journal of Human Genetics : EJHG|November 20, 2022
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eyeBertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
Pageof 10

Showing results (1-10 of 93) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|July 20, 2012
Pseudoaminopterin syndromeLilia Kraoua, Yline Capri, Laurence Perrin, et al.
European Journal of Medical Genetics|February 22, 2011
A familial syndromal form of omphaloceleMarylin Port-Lis, Camille Leroy, Sylvie Manouvrier, et al.
Prenatal Diagnosis|June 8, 2012
Prenatal phenotype of congenital hyperparathyroidismEmmanuel Spaggiari, Margot Bucau, Yline Capri, et al.
Clinical Genetics|July 11, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathyYline Capri, Lucas Bourmance, Céline Dupont, et al.
European Journal of Medical Genetics|January 23, 2013
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic featuresCéline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, et al.
Clinical Genetics|February 6, 2020
LEF1 haploinsufficiency causes ectodermal dysplasiaJonathan Lévy, Yline Capri, Myriam Rachid, et al.
European Journal of Medical Genetics|January 22, 2019
Oligo-astrocytoma in LZTR1-related Noonan syndromeAdeline Jacquinet, Adeline Bonnard, Yline Capri, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplicationJérôme Rambaud, Isabelle Marey, Céline Dupont, et al.
European Journal of Medical Genetics|September 2, 2021
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literatureMarion Lesieur-Sebellin, Yline Capri, Margot Grisval, et al.
European Journal of Human Genetics : EJHG|November 20, 2022
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eyeBertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
Pageof 10