المؤلفون: Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: multivitamin deficiency, intronic variation, splicing, recurrent, mixed neuropathy, optic atrophy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1352006/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/996c5f2b1d304ade96264a8eba265cad

المؤلفون: Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, multivitamin deficiency, intronic variation, splicing, recurrent, mixed neuropathy, optic atrophy

Relation: https://figshare.com/articles/dataset/DataSheet1_Recurrent_outsider_intronic_variation_in_the_SLC5A6_gene_causes_severe_mixed_axonal_and_demyelinating_neuropathy_cyclic_vomiting_and_optic_atrophy_in_3_families_from_Maghreb_pdf/25100819

الاتاحة: https://doi.org/10.3389/fgene.2024.1352006.s001
https://figshare.com/articles/dataset/DataSheet1_Recurrent_outsider_intronic_variation_in_the_SLC5A6_gene_causes_severe_mixed_axonal_and_demyelinating_neuropathy_cyclic_vomiting_and_optic_atrophy_in_3_families_from_Maghreb_pdf/25100819

المؤلفون: Ammar Ghabi, Alexandre Sabate Ferris, Georges Pfister, Marie-Pauline Chapon, Josette Legagneux, Madeleine Harion, Bernard De Geofroy, Laurent Mathieu

المصدر: Indian Journal of Orthopaedics. 57:305-309

مصطلحات موضوعية: Philosophy, Physics and Astronomy (miscellaneous), General Chemical Engineering, General Mathematics, Metals and Alloys, General Engineering, General Physics and Astronomy, General Materials Science, Orthopedics and Sports Medicine, Condensed Matter Physics, Applied Psychology, Electronic, Optical and Magnetic Materials

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a3e0fabf39f31bc206431ad44414d5
https://doi.org/10.1007/s43465-022-00797-z

المؤلفون: Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen

المساهمون: CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Amiens-Picardie, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩

مصطلحات موضوعية: phenotype, genotype, [SDV]Life Sciences [q-bio], cerebellar diseases, Genetics, nervous system malformations, Genetics (clinical), genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd9d723f406e4699bfc181bb3ad558d
https://hal.science/hal-03837222/document

المؤلفون: Madeleine, Harion, Leila, Qebibo, Audrey, Riquet, Christelle, Rougeot, Alexandra, Afenjar, Catherine, Garel, Malek, Louha, Emmanuelle, Lacaze, Frédérique, Audic-Gérard, Magali, Barth, Patrick, Berquin, Dominique, Bonneau, Frédéric, Bourdain, Tiffany, Busa, Estelle, Colin, Jean-Marie, Cuisset, Vincent, Des Portes, Nathalie, Dorison, Christine, Francannet, Bénédicte, Héron, Cécile, Laroche, Marine, Lebrun, Julia, Métreau, Sylvie, Odent, Laurent, Pasquier, Yaumara Perdomo, Trujillo, Laurine, Perrin, Lucile, Pinson, François, Rivier, Sabine, Sigaudy, Christel, Thauvin-Robinet, Ulrike Walther, Louvier, Olivier, Labayle, Diana, Rodriguez, Stéphanie, Valence, Lydie, Burglen

المصدر: Journal of medical genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7c1b850603130caa7309c09f8580aeff
https://pubmed.ncbi.nlm.nih.gov/36319078

المؤلفون: Ammar GHABI, Alexandre SABATE FERRIS, Georges PFISTER, Marie Pauline CHAPON, Josette Legagneux, Madeleine HARION, Laurent MATHIEU

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9fc8dc92b8bd0c2fd3a04437aa5e71f0
https://doi.org/10.21203/rs.3.rs-551087/v1