المؤلفون: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

المصدر: Frontiers in Physiology, Vol 14 (2023)

مصطلحات موضوعية: enamel, amelogenesis imperfecta, genetics, rare diseases, NGS, next-generation sequencing, Physiology, QP1-981

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2023.1130175/fullTest; https://doaj.org/toc/1664-042XTest

الوصول الحر: https://doaj.org/article/be19745ebc994351a79834498f898534Test

المؤلفون: Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/939b1e803648458f978aa0c525329996Test

المؤلفون: Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: genome sequencing, RNA-seq, optical genome mapping, long-read sequencing, clinical diagnoses, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1021920/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/4593e6258ee746c78872071719392347Test

المؤلفون: Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1019715/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0Test

المؤلفون: Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)

مصطلحات موضوعية: Inherited metabolic disorders, Exome sequencing, Intellectual disability, Developmental delay, Genotype first, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921001075Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest

المؤلفون: Anne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, Nathalie Marle, Caroline Truntzer, Thierry Rousseau, Clémence Ragon, Muriel Payet, Christelle Thauvin-Robinet, Julien Thevenon, Salima El Chehadeh, Fréderic Huet, Paul Sagot, Francine Mugneret, Patrick Callier

المصدر: PLoS ONE, Vol 8, Iss 4, p e59956 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3614959?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/5875db00ecf142bea920400eb0b2d35eTest

المؤلفون: Elisa Calì 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12, SYNaPS Study Group, Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria

المساهمون: Elisa Calì 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12, SYNaPS Study Group, Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; numberofpages:9; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/580372Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136518302

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.013Test
https://hdl.handle.net/10447/580372Test

المؤلفون: Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca, Yavuz Şahin, Aisha Al Shamsi, Salima El Chehadeh, M. Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stéphanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou‐Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, Andrea Accogli, Cassidy Petree, Kevin Huang, K. Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Lihadh Al‐Gazali, Marie Thérèse Abi Warde, Bénédicte Gérard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel A. Soler, Enza Maria Valente, Gaurav K. Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya

مصطلحات موضوعية: Molecular Basis of Rett Syndrome and Related Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Epigenetic Modifications and Their Functional Implications, Molecular Biology, RNA Methylation and Modification in Gene Expression, mRNA modification, Neurodegeneration, Exome sequencing, Biology, Zebrafish, Phenotype, Microcephaly, Loss function, Protein subunit, Disease, CRISPR, Medicine, Neuroscience, Gene, Pathology

العلاقة: https://dx.doi.org/10.60692/6969a-9g414Test

الإتاحة: https://doi.org/10.60692/b1eme-vsd4310.60692/6969a-9g414Test

المؤلفون: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, Geneviève David, Christel Thauvin‐Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié‐Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, Bruno Leheup, Martine Doco‐Fenzy, Céline Poirsier, Marta Spodenkiewicz, Lola Lissy, Audrey Lannoy, Elise Shaefer, Salima El Chehadeh, Jeanne Amiel, Cyril Mignot, Judith Melki, Sandra Whalen, Marilyn Irène Lackmy, Benoît Funalot, Gilles Morin, Marion Gérard, Nicolas Gruchy, Arnaud Molin, Annick Toutain, Stéphanie Arpin, Sophie Blesson, Médéric Jeanne, Bertrand Isidor, Marie Vincent, Mathilde Nizon, Sandra Mercier, Dominique Bonneau, Estelle Colin, Alban Ziegler, Séverine Audebert‐Bellanger

مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Rearrangements and Copy Number Variations, Molecular Basis of Rett Syndrome and Related Disorders, Variant Databases, Epidemiology, Medicine, Christian ministry, Medical diagnosis, Family medicine, Population, Pediatrics, Health care, Environmental health, Pathology, Philosophy, FOS Philosophy, ethics and religion, Theology, Economics, Economic growth

العلاقة: https://dx.doi.org/10.60692/y135f-ye373Test

الإتاحة: https://doi.org/10.60692/fz40y-2e99210.60692/y135f-ye373Test

المؤلفون: Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2c59bc993669dbcd0685342c07953eeeTest
https://doi.org/10.21203/rs.3.rs-2924104/v1Test