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Mélanie Fradin

Showing results (1-10 of 74) with videos related to

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Pediatric Radiology|November 16, 2010
Raine syndrome: expanding the radiological spectrumMériam Koob, Bérénice Doray, Mélanie Fradin, et al.
Clinical Genetics|February 22, 2024
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case reportAnaïk Previdi, Christèle Dubourg, Valérie Cormier Daire, et al.
International Journal of Molecular Sciences|March 14, 2017
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic StrategyCyrille Robert, Laurent Pasquier, David Cohen, et al.
Virchows Archiv : an International Journal of Pathology|August 5, 2025
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 geneRoberta Maragliano, Adélie Perrot, Philippe Loget, et al.
European Journal of Medical Genetics|April 30, 2017
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutationChloé Quélin, Philippe Loget, Céline Rozel, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesisChloé Quélin, Philippe Loget, Lucile Boutaud, et al.
Ophthalmic Genetics|March 27, 2014
MSX2 Gene Duplication in a Patient with Eye Development DefectsJulie Plaisancié, Corinne Collet, Valerie Pelletier, et al.
Human Genetics|March 7, 2019
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disordersMarie Beaumont, Linda Akloul, Wilfrid Carré, et al.
Computational and Structural Biotechnology Journal|August 25, 2021
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large <i>KIF5A</i> deletions detected by CovCopCan softwareIoanna Pyromali, Alexandre Perani, Angélique Nizou, et al.
European Journal of Medical Genetics|December 23, 2015
Karyotype is not dead (yet)!Laurent Pasquier, Mélanie Fradin, Elouan Chérot, et al.
Pageof 8

Showing results (1-10 of 74) with videos related to

Sort By:
Pageof 8
Pediatric Radiology|November 16, 2010
Raine syndrome: expanding the radiological spectrumMériam Koob, Bérénice Doray, Mélanie Fradin, et al.
Clinical Genetics|February 22, 2024
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case reportAnaïk Previdi, Christèle Dubourg, Valérie Cormier Daire, et al.
International Journal of Molecular Sciences|March 14, 2017
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic StrategyCyrille Robert, Laurent Pasquier, David Cohen, et al.
Virchows Archiv : an International Journal of Pathology|August 5, 2025
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 geneRoberta Maragliano, Adélie Perrot, Philippe Loget, et al.
European Journal of Medical Genetics|April 30, 2017
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutationChloé Quélin, Philippe Loget, Céline Rozel, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesisChloé Quélin, Philippe Loget, Lucile Boutaud, et al.
Ophthalmic Genetics|March 27, 2014
MSX2 Gene Duplication in a Patient with Eye Development DefectsJulie Plaisancié, Corinne Collet, Valerie Pelletier, et al.
Human Genetics|March 7, 2019
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disordersMarie Beaumont, Linda Akloul, Wilfrid Carré, et al.
Computational and Structural Biotechnology Journal|August 25, 2021
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large <i>KIF5A</i> deletions detected by CovCopCan softwareIoanna Pyromali, Alexandre Perani, Angélique Nizou, et al.
European Journal of Medical Genetics|December 23, 2015
Karyotype is not dead (yet)!Laurent Pasquier, Mélanie Fradin, Elouan Chérot, et al.
Pageof 8