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41دورية أكاديمية
المؤلفون: Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
المصدر: European Journal of Human Genetics ; volume 22, issue 11, page 1272-1277 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/ejhg.2013.288Test
http://www.nature.com/articles/ejhg2013288.pdfTest
http://www.nature.com/articles/ejhg2013288Test -
42دورية أكاديمية
المؤلفون: Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie
المصدر: European Journal of Human Genetics ; volume 22, issue 11, page 1340-1340 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/ejhg.2014.182Test
http://www.nature.com/articles/ejhg2014182.pdfTest
http://www.nature.com/articles/ejhg2014182Test -
43
المؤلفون: H��ffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Fr��d��ric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Kl��ckner, Chiara, McGaughran, Julie, Kohlhase, J��rgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, Andr��, Zweier, Christiane
المصدر: Orphanet Journal of Rare Diseases
Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; ... (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1 <http://dx.doi.org/10.1186/s13023-021-01744-1Test>مصطلحات موضوعية: Cleft Lip, Eukaryotic Initiation Factor-3, Research, EIF3F gene, 610 Medicine & health, Deafness, Cleft Palate, Short stature, Neurodevelopmental disorder, Neurodevelopmental Disorders, Intellectual Disability, Microcephaly, Behavioral difficulties, Humans, Altered muscular tone, ddc:610
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c030976d24aa0e2895bd4c27349a1a1Test
https://opus4.kobv.de/opus4-fau/files/17672/s13023-021-01744-1.pdfTest -
44دورية أكاديمية
المؤلفون: Bolkier, Yoav, Barel, Ortal, Marek-Yagel, Dina, Atias-Varon, Danit, Kagan, Maayan, Vardi, Amir, Mishali, David, Katz, Uriel, Salem, Yishay, Tirosh-Wagner, Tal, Jacobson, Jeffrey M., Raas-Rothschild, Annick, Chorin, Odelia, Eliyahu, Aviva, Sarouf, Yarden, Shlomovitz, Omer, Veber, Alvit, Shalva, Nechama, Javasky, Elisheva, Moshe, Yishay Ben
المصدر: Journal of Medical Genetics; Jul2022, Vol. 59 Issue 7, p691-696, 16p
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45دورية أكاديمية
المؤلفون: Marek‐Yagel, Dina, Bolkier, Yoav, Barel, Ortal, Vardi, Amir, Mishali, David, Katz, Uriel, Salem, Yishay, Abudi, Shachar, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Rechavi, Gideon, Anikster, Yair, Pode‐Shakked, Ben
المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 5, page 987-993 ; ISSN 1552-4825 1552-4833
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46دورية أكاديمية
المؤلفون: Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske
المصدر: Molecular Psychiatry ; volume 26, issue 6, page 2013-2024 ; ISSN 1359-4184 1476-5578
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Psychiatry and Mental health, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41380-020-0725-5Test
https://www.nature.com/articles/s41380-020-0725-5.pdfTest
https://www.nature.com/articles/s41380-020-0725-5Test -
47دورية أكاديمية
المؤلفون: Gabis, Lidia V., Shefer, Shahar, Raas-Rothschild, Annick
المصدر: Journal of Molecular Neuroscience ; volume 70, issue 2, page 254-259 ; ISSN 0895-8696 1559-1166
مصطلحات موضوعية: Cellular and Molecular Neuroscience, General Medicine
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48دورية أكاديمية
المؤلفون: Pode-Shakked, Ben, Finezilber, Yael, Levi, Yonit, Liber, Shiri, Fleischer, Nicole, Greenbaum, Lior, Raas-Rothschild, Annick
المصدر: European Journal of Medical Genetics ; volume 63, issue 7, page 103927 ; ISSN 1769-7212
مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine
الإتاحة: https://doi.org/10.1016/j.ejmg.2020.103927Test
https://api.elsevier.com/content/article/PII:S1769721220300057?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721220300057?httpAccept=text/plainTest -
49دورية أكاديمية
المؤلفون: Liber, Shiri, Staretz-Chacham, Orna, Kishon, Mor, Pode-Shakked, Ben, Chorin, Odelia, Kneller, Katya, Anikster, Yair, Mangisto, Geto, Saada, Ann, Raas-Rothschild, Annick
المصدر: Molecular Syndromology; Feb2022, Vol. 13 Issue 1, p45-49, 5p
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50دورية أكاديمية
المؤلفون: Jamra, Rami, Abou, Philippe, Orianne, Raas-Rothschild, Annick, Eck, Sebastian, Graf, Elisabeth, Buchert, Rebecca, Borck, Guntram, Ekici, Arif, Brockschmidt, Felix, F, Nöthen, Markus, M., Munnich, Arnold, Strom, Tim, M, Reis, André, Colleaux, Laurence
المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), The Chaim Sheba Medical Center Tel Hashomer, Israel, Institute of Human Genetics, Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU)-Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), Universität Ulm - Ulm University Ulm, Allemagne, Department of Genomics, Life and Brain Center, Universität Bonn = University of Bonn, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), Institute of Human Genetics Erlangen, Allemagne, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Imagine - Institut des maladies génétiques (IMAGINE - U1163)
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
العلاقة: hal-02044450; https://hal.science/hal-02044450Test; https://hal.science/hal-02044450/documentTest; https://hal.science/hal-02044450/file/AP4.pdfTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2011.04.019Test
https://hal.science/hal-02044450Test
https://hal.science/hal-02044450/documentTest
https://hal.science/hal-02044450/file/AP4.pdfTest
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