المؤلفون: Guillon, Louise, Chavas, Joël, Bénézit, Audrey, Moutard, Marie-Laure, Rivière, Denis, Mangin, Jean-François

مصطلحات موضوعية: Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition

الوصول الحر: http://arxiv.org/abs/2211.16213Test

المؤلفون: Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie‐Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer‐Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Consortium, IRC5, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J

المصدر: Human Mutation. 39(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Digestive Diseases, Brain Disorders, Neurosciences, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Abnormalities, Multiple, Agenesis of Corpus Callosum, Amino Acid Sequence, Binding Sites, Conserved Sequence, Databases, Genetic, Genes, DCC, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Models, Molecular, Mutation, Netrin-1, Phenotype, Protein Binding, Protein Conformation, Protein Domains, Syndrome, ACC, agenesis of the corpus callosum, axon guidance, DCC, developmental split brain syndrome, horizontal gaze palsy with progressive scoliosis, mirror movements, mutation, NTN1, IRC5 Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79v6v22qTest

المؤلفون: Marsh, Ashley PL, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah EM, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

المصدر: Nature Genetics. 49(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, Abnormalities, Multiple, Agenesis of Corpus Callosum, Brain, Corpus Callosum, DCC Receptor, Developmental Disabilities, Family, Female, Humans, Male, Mutation, Nervous System Malformations, Neural Stem Cells, Penetrance, Phenotype, Receptors, Cell Surface, Tumor Suppressor Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/89q47498Test

المؤلفون: Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J, Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Jonson, Tord, Soller, Maria

المصدر: Human Genetics. 136(4):463-479

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/0ad511dd-dd21-4406-92eb-78d35e193ce3Test
http://dx.doi.org/10.1007/s00439-017-1772-0Test

المؤلفون: Loussouarn, Anna, Doummar, Diane, Beaugendre, Yara, Bienvenu, Thierry, Charles, Perrine, Depienne, Christel, Dorison, Nathalie, Heide, Solveig, Héron, Delphine, Ioos, Christine, Keren, Boris, Métreau, Julia, Mochel, Fanny, Moutard, Marie-Laure, Ravelli, Claudia, Apartis, Emmanuelle, Mignot, Cyril

المصدر: European Journal of Paediatric Neurology ; volume 34, page 62-66 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2021.06.005Test
https://api.elsevier.com/content/article/PII:S1090379821001276?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379821001276?httpAccept=text/plainTest

المؤلفون: Duarte, Kévin, Heide, Solveig, Poea-Guyon, Sandrine, Rousseau, Veronique, Depienne, Christel, Rastetter, Agnès, Nava, Caroline, Attié-Bitach, Tania, Razavi, Ferechté, Martinovic, Jelena, Moutard, Marie Laure, Cherfils, Jacqueline, Mignot, Cyril, Héron, Delphine, Barnier, Jean-Vianney

المساهمون: Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, 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), Unité fonctionnelle de Fœtopathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère Clamart, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau APHP, Laboratoire de biologie et pharmacologie appliquée (LBPA), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Ecole Normale Supérieure Paris-Saclay (ENS Paris Saclay)

المصدر: ISSN: 0969-9961.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31843706; hal-02937576; https://hal.science/hal-02937576Test; https://hal.science/hal-02937576/documentTest; https://hal.science/hal-02937576/file/2019-Duarte%20NOD-%20R67C%20ACC%20Migration.pdfTest; PUBMED: 31843706

الإتاحة: https://doi.org/10.1016/j.nbd.2019.104709Test
https://hal.science/hal-02937576Test
https://hal.science/hal-02937576/documentTest
https://hal.science/hal-02937576/file/2019-Duarte%20NOD-%20R67C%20ACC%20Migration.pdfTest

المؤلفون: Nasser, Hala, Vera, Liza, Elmaleh-Bergès, Monique, Steindl, Katharina, Létard, Pascaline, Teissier, Natacha, Ernault, Anais, Guimiot, Fabien, Afenjar, Alexandra, Moutard, Marie Laure, Héron, Delphine, Alembik, Yves, Momtchilova, Martha, Milani, Paolo, Kubis, Nathalie, Pouvreau, Nathalie, Zollino, Marcella, Guilmin Crepon, Sophie, Kaguelidou, Florentia, Gressens, Pierre, Verloes, Alain, Rauch, Anita, El Ghouzzi, Vincent, Drunat, Séverine, Passemard, Sandrine

المساهمون: Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Department of Medical Genetics, Les Hôpitaux Universitaires de Strasbourg (HUS), Service de Neurologie Pédiatrique, HFME, Bron, France, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Unité fonctionnelle de génétique clinique, Istituto di Genetica Medica, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institute of Medical Genetics, Universität Zürich Zürich = University of Zurich (UZH), ANR-16-CE16-0024,MicroGol,Implication des fonctions sécrétoires de l'appareil de Golgi dans le développement des microcéphalies postnatales avec déficit intellectuel(2016)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

العلاقة: hal-02466166; https://hal.science/hal-02466166Test; https://hal.science/hal-02466166/documentTest; https://hal.science/hal-02466166/file/Nasser%20et%20al%202020_Last%20version%20before%20copyright.pdfTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106474Test
https://hal.science/hal-02466166Test
https://hal.science/hal-02466166/documentTest
https://hal.science/hal-02466166/file/Nasser%20et%20al%202020_Last%20version%20before%20copyright.pdfTest

المؤلفون: Jordan, Maud, Carmignac, Virginie, Sorlin, Arthur, Kuentz, Paul, Albuisson, Juliette, Borradori, Luca, Bourrat, Emmanuelle, Boute, Odile, Bukvic, Nenad, Bursztejn, Anne-Claire, Chiaverini, Christine, Delobel, Bruno, Fournet, Marine, Martel, Jehanne, Goldenberg, Alice, Hadj-Rabia, Smaïl, Mahé, Antoine, Maruani, Annabel, Mazereeuw, Juliette, Mignot, Cyril, Morice-Picard, Fanny, Moutard, Marie-Laure, Petit, Florence, Pasteur, Justine, Phan, Alice, Whalen, Sandra, Willems, Marjolaine, Philippe, Christophe, Vabres, Pierre

المصدر: Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; Kuentz, Paul; Albuisson, Juliette; Borradori, Luca; Bourrat, Emmanuelle; Boute, Odile; Bukvic, Nenad; Bursztejn, Anne-Claire; Chiaverini, Christine; Delobel, Bruno; Fournet, Marine; Martel, Jehanne; Goldenberg, Alice; Hadj-Rabia, Smaïl; Mahé, Antoine; Maruani, Annabel; Mazereeuw, Juliette; Mignot, Cyril; . (2020). Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. Journal of investigative dermatology, 140(5), 1106-1110.e2. Elsevier 10.1016/j.jid.2019.08.455

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/136733Test/

الإتاحة: https://doi.org/10.1016/j.jid.2019.08.455Test
https://boris.unibe.ch/136733/1/borradori.pdfTest
https://boris.unibe.ch/136733Test/

المؤلفون: Rousseau, Marie-Christine, Baumstarck, Karine, Valkov, Maria, Felce, Agnés, Brisse, Catherine, Khaldi-Cherif, Sherezad, Loundou, Anderson, Auquier, Pascal, Billette de Villemeur, Thierry, The French Polyhandicap Group, Leroy, Tanguy, Haddadou, Souhali, Freihuber, Cécile, Bonheur, Julie, Valence, Stéphanie, Nougues, Marie-Christine, Luciani, Laurent, Nouet, Jean-Pierre, Coiffier, Catherine, Sellier, Philippe, Mathieu, Sophie, Ardati, Moustafa, Héron, Delphine, Afenjar, Alexandra, Rodriguez, Diana, Doummar, Diana, Moutard, Marie-Laure, Willocq, Daniel, Pietra, Stéphane, Lenormand, Stéphane, Grimont, Elizabeth

مصطلحات موضوعية: Original research

وصف الملف: text/html

العلاقة: http://bmjopen.bmj.com/cgi/content/short/10/1/e032257Test; http://dx.doi.org/10.1136/bmjopen-2019-032257Test

الإتاحة: https://doi.org/10.1136/bmjopen-2019-032257Test
http://bmjopen.bmj.com/cgi/content/short/10/1/e032257Test

المؤلفون: Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, Héron, Delphine

المساهمون: Assistance Publique - Hôpitaux de Paris

المصدر: Genetics in Medicine ; volume 22, issue 11, page 1887-1891 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-0872-8Test
http://www.nature.com/articles/s41436-020-0872-8.pdfTest
http://www.nature.com/articles/s41436-020-0872-8Test
https://api.elsevier.com/content/article/PII:S1098360021007668?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021007668?httpAccept=text/plainTest