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Florence Fellmann

Showing results (31-40 of 46) with videos related to

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Nature Communications|September 21, 2021
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicityEndika Haro, Florence Petit, Charmaine U Pira, et al.
European Journal of Human Genetics : EJHG|September 25, 2014
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonablenessFranziska Severin, Pascal Borry, Martina C Cornel, et al.
The Journal of Allergy and Clinical Immunology|November 27, 2015
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammationFlorence Fellmann, Federica Angelini, Jacqueline Wassenberg, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
Nature Communications|May 10, 2024
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligaseStéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
European Journal of Human Genetics : EJHG|June 26, 2019
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac deathFlorence Fellmann, Carla G van El, Philippe Charron, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann, Françoise Denoyelle, Pierre Chauvin, et al.
Archives of Otolaryngology--Head & Neck Surgery|June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patientsSandrine Marlin, Delphine Feldmann, Hélène Blons, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Nature Communications|September 21, 2021
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicityEndika Haro, Florence Petit, Charmaine U Pira, et al.
European Journal of Human Genetics : EJHG|September 25, 2014
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonablenessFranziska Severin, Pascal Borry, Martina C Cornel, et al.
The Journal of Allergy and Clinical Immunology|November 27, 2015
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammationFlorence Fellmann, Federica Angelini, Jacqueline Wassenberg, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
Nature Communications|May 10, 2024
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligaseStéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
European Journal of Human Genetics : EJHG|June 26, 2019
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac deathFlorence Fellmann, Carla G van El, Philippe Charron, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann, Françoise Denoyelle, Pierre Chauvin, et al.
Archives of Otolaryngology--Head & Neck Surgery|June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patientsSandrine Marlin, Delphine Feldmann, Hélène Blons, et al.
Pageof 5