المؤلفون: Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/9c5ec937868541c8bad4ceb27187e34f

المؤلفون: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: SLC6A1, intrafamilial variability, epilepsy, neurodevelopmental disorders, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1270299/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/7533f9f845bf4c47b91866edd70387ed

المؤلفون: Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: AI, machine learning, dysmorphology, craniofacial malformation, MFDM, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1171277/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e72a58df2f8b494196509d3410ed6345

المؤلفون: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: SLC6A1, intrafamilial variability, epilepsy, neurodevelopmental disorders, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1219262/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/b5e06920b7a34b5dbc7784d184b2df59

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

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/939b1e803648458f978aa0c525329996

المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd

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

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1019715/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0

المؤلفون: Flavien Rouxel, Julien Fauré, Jean-Michel Faure, Françoise Deschamps, Gilles Burlet, Anaig Flandrin, Alain Couture, Olivier Prodhomme, John Rendu, Marjolaine Willems

المصدر: Heliyon, Vol 8, Iss 12, Pp e12210- (2022)

مصطلحات موضوعية: Fetus, OCRL, X-linked, Lowe syndrome, Isolated cataract, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844022034983; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/fa2056a3ce204839b08ccbebd0519224

المؤلفون: Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/54f8fe923ab549de9877b0baef9d1c16

المؤلفون: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, 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, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Rare disease, Developmental disorders, Data warehouse, Epidemiology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/216dd0ccc9184791b1c6f53a91e40c0a

المؤلفون: Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Autism, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02

المؤلفون: Sophie Brouillet, Sandie Mereuze, Noémie Ranisavljevic, Claire Chauveau, Samir Hamamah, Julie Cattin, Camille Verebi, Christelle Cabrol, Aliya Ishmukhametova, Anne Girardet, Tal Anahory, Marjolaine Willems

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10835

مصطلحات موضوعية: preimplantation genetic testing, blastocyst, pregnancy, monozygotic, twin, dichorionic, diamniotic

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms231810835

الاتاحة: https://doi.org/10.3390/ijms231810835

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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001075; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582e

المؤلفون: Claude Messiaen (11233482), Caroline Racine (11233485), Ahlem Khatim (11233488), Louis Soussand (11233491), Sylvie Odent (689615), Didier Lacombe (289463), Sylvie Manouvrier (327682), Patrick Edery (625611), Sabine Sigaudy (3181200), David Geneviève (11233494), Christel Thauvin-Robinet (558271), Laurent Pasquier (5875448), Florence Petit (4260166), Massimiliano Rossi (669874), Marjolaine Willems (8882330), Tania Attié-Bitach (3181167), Pierre-Henry Roux-Levy (11233497), Laurent Demougeot (341284), Lilia Ben Slama (11233500), Paul Landais (3743092), Anne-Sophie Jannot (286187), Christine Binquet (403042), Arnaud Sandrin (8222703), Alain Verloes (330238), Laurence Faivre (397333)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Immunology, Cancer, Science Policy, Infectious Diseases, Rare disease, Developmental disorders, Data warehouse, Epidemiology

Relation: https://figshare.com/articles/presentation/Additional_file_2_of_10_years_of_CEMARA_database_in_the_AnDDI-Rares_network_a_unique_resource_facilitating_research_and_epidemiology_in_developmental_disorders_in_France/15110031

الاتاحة: https://doi.org/10.6084/m9.figshare.15110031.v1

المؤلفون: Claude Messiaen (11233482), Caroline Racine (11233485), Ahlem Khatim (11233488), Louis Soussand (11233491), Sylvie Odent (689615), Didier Lacombe (289463), Sylvie Manouvrier (327682), Patrick Edery (625611), Sabine Sigaudy (3181200), David Geneviève (11233494), Christel Thauvin-Robinet (558271), Laurent Pasquier (5875448), Florence Petit (4260166), Massimiliano Rossi (669874), Marjolaine Willems (8882330), Tania Attié-Bitach (3181167), Pierre-Henry Roux-Levy (11233497), Laurent Demougeot (341284), Lilia Ben Slama (11233500), Paul Landais (3743092), Anne-Sophie Jannot (286187), Christine Binquet (403042), Arnaud Sandrin (8222703), Alain Verloes (330238), Laurence Faivre (397333)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Immunology, Cancer, Science Policy, Infectious Diseases, Rare disease, Developmental disorders, Data warehouse, Epidemiology

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_10_years_of_CEMARA_database_in_the_AnDDI-Rares_network_a_unique_resource_facilitating_research_and_epidemiology_in_developmental_disorders_in_France/15110028

الاتاحة: https://doi.org/10.6084/m9.figshare.15110028.v1

المؤلفون: Claude Messiaen (11233482), Caroline Racine (11233485), Ahlem Khatim (11233488), Louis Soussand (11233491), Sylvie Odent (689615), Didier Lacombe (289463), Sylvie Manouvrier (327682), Patrick Edery (625611), Sabine Sigaudy (3181200), David Geneviève (11233494), Christel Thauvin-Robinet (558271), Laurent Pasquier (5875448), Florence Petit (4260166), Massimiliano Rossi (669874), Marjolaine Willems (8882330), Tania Attié-Bitach (3181167), Pierre-Henry Roux-Levy (11233497), Laurent Demougeot (341284), Lilia Ben Slama (11233500), Paul Landais (3743092), Anne-Sophie Jannot (286187), Christine Binquet (403042), Arnaud Sandrin (8222703), Alain Verloes (330238), Laurence Faivre (397333)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Immunology, Cancer, Science Policy, Infectious Diseases, Rare disease, Developmental disorders, Data warehouse, Epidemiology

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_10_years_of_CEMARA_database_in_the_AnDDI-Rares_network_a_unique_resource_facilitating_research_and_epidemiology_in_developmental_disorders_in_France/15110037

الاتاحة: https://doi.org/10.6084/m9.figshare.15110037.v1

المؤلفون: Evin M. Padhi (11129998), Tristan J. Hayeck (11130001), Zhang Cheng (802884), Sumantra Chatterjee (11130004), Brandon J. Mannion (11130007), Marta Byrska-Bishop (11130010), Marjolaine Willems (8882330), Lucile Pinson (11130013), Sylvia Redon (11130016), Caroline Benech (204323), Kevin Uguen (11130019), Séverine Audebert-Bellanger (10930066), Cédric Le Marechal (11130022), Claude Férec (204332), Stephanie Efthymiou (4569349), Fatima Rahman (11130025), Shazia Maqbool (11130028), Reza Maroofian (5237852), Henry Houlden (110428), Rajeeva Musunuri (11130031), Giuseppe Narzisi (107365), Avinash Abhyankar (140166), Riana D. Hunter (5320184), Jennifer Akiyama (11130034), Lauren E. Fries (11130037), Jeffrey K. Ng (11130040), Elvisa Mehinovic (11130043), Nick Stong (11130046), Andrew S. Allen (11130049), Diane E. Dickel (4379629), Raphael A. Bernier (5016758), David U. Gorkin (8571390), Len A. Pennacchio (10721833), Michael C. Zody (11130052), Tychele N. Turner (11130055)

مصطلحات موضوعية: Genetics, Autism, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Genome, Variant, De novo

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Coding_and_noncoding_variants_in_EBF3_are_involved_in_HADDS_and_simplex_autism/14978464

الاتاحة: https://doi.org/10.6084/m9.figshare.14978464.v1

المؤلفون: Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13294

مصطلحات موضوعية: Usher syndrome, retinitis pigmentosa, hearing loss, MYO7A, USH2A, pathogenic genotype, ACMG classification, deep intronic variant

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms222413294

الاتاحة: https://doi.org/10.3390/ijms222413294

المؤلفون: Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems

المصدر: Diagnostics; Volume 11; Issue 9; Pages: 1636

مصطلحات موضوعية: familial hearing loss, multiple diagnoses, non-syndromic hearing loss, ACTG1, MYH9

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11091636

الاتاحة: https://doi.org/10.3390/diagnostics11091636

المؤلفون: Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Fabry disease, Anti-drug antibodies, Agalsidase, Lysosomal storage disease, Enzyme replacement therapy, IgG4, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0877-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2330ea9cdd2243ae9ab95d07271dc352