المؤلفون: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Jansen, Sandra, Brunner, Han G., Fisher, Simon E., Campeau, P.M.

المصدر: Snijders Blok , L , Rousseau , J , Twist , J , Ehresmann , S , Takaku , M , Venselaar , H , Rodan , L H , Nowak , C B , Douglas , J , Swoboda , K J , Steeves , M A , Sahai , I , Stumpel , C T R M , Stegmann , A P A , Wheeler , P , Willing , M , Fiala , E , Kochhar , A , Gibson , W T , Cohen , A S A , Agbahovbe , R , Innes , ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/ccabbb9c-e5a8-4865-9def-c1e368b21a55Test

الإتاحة: https://doi.org/10.1038/s41467-019-10161-9Test
https://cris.maastrichtuniversity.nl/en/publications/ccabbb9c-e5a8-4865-9def-c1e368b21a55Test

المؤلفون: Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H.

المصدر: Nature Communications ; volume 10, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-019-08800-2Test
https://www.nature.com/articles/s41467-019-08800-2.pdfTest
https://www.nature.com/articles/s41467-019-08800-2Test

المؤلفون: Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, Andre, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L., I, van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

المساهمون: Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: General Chemistry, General Biochemistry,Genetics and Molecular Biology, General Physics and Astronomy

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/377203Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/377203Test

المؤلفون: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance, H, Nowak, Catherine, B., Douglas, Jessica, Swoboda, Kathryn, J, Steeves, Marcie, A, Sahai, Inderneel, Stumpel, Connie, Stegmann, Alexander, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William, T, Cohen, Ana, S A, Agbahovbe, Ruky, Innes, A. Micheil, Au, P., y Billie, Rankin, Julia, Anderson, Ilse, J, Skinner, Steven, A, Louie, Raymond, J, Warren, Hannah, E, Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong, H, Price, Susan, Schnur, Rhonda, E, Douglas, Ganka, Wentzensen, Ingrid, M, Zweier, Christiane, Reis, André, Bialer, Martin, G, Moore, Christine, Koopmans, Marije, Brilstra, Eva, Monroe, Glen, R, van Gassen, Koen, L, van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes, A, Wortmann, Saskia, Jakielski, Kathy, J, Strand, Edythe, A, Kloth, Katja, Bierhals, Tatjana, Roberts, John, D, Petrovich, Robert, M, Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han, G., Wade, Paul, A, Fisher, Simon, Campeau, Philippe

المساهمون: Radboud University Medical Center Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, CHU Sainte Justine Montréal, Boston Children's Hospital, Massachusetts General Hospital Boston, School for Oncology and Developmental Biology Maastricht (GROW), Maastricht University Maastricht -Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Maastricht University Medical Centre (MUMC), University of British Columbia (UBC), University of Calgary, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Filière Neuromusculaire (FILNEMUS), Virginia Commonwealth University (VCU), University Medical Center Groningen Groningen (UMCG), Seoul National University Seoul (SNU), Oxford University Hospitals NHS Trust, University of Oxford, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), University Medical Center Utrecht, University Hospitals Bristol, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Helmholtz Zentrum München = German Research Center for Environmental Health, Mayo Clinic Rochester, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Waseda University Tokyo, Japan, Université de Bourgogne (UB), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Human Genetics Nijmegen

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM]

العلاقة: hal-01922858; https://hal.sorbonne-universite.fr/hal-01922858Test; https://hal.sorbonne-universite.fr/hal-01922858/documentTest; https://hal.sorbonne-universite.fr/hal-01922858/file/s41467-018-06014-6.pdfTest

الإتاحة: https://doi.org/10.1038/s41467-018-06014-6Test
https://hal.sorbonne-universite.fr/hal-01922858Test
https://hal.sorbonne-universite.fr/hal-01922858/documentTest
https://hal.sorbonne-universite.fr/hal-01922858/file/s41467-018-06014-6.pdfTest

المؤلفون: Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P, Crenshaw, Melissa, Bartholomew, Dennis W, Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G, Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L, Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M, Frydman, Moshe, Gardner, Kathy, Gripp, Karen W, Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K, Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K, Powell, Cynthia M, Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P, Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C, Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

المصدر: HUMAN MUTATION ; ISSN: 1059-7794

مصطلحات موضوعية: Biology and Life Sciences, neurofibromatosis type 1, NF1, Arg1809, phenotype-genotype correlations, Legius syndrome, NEUROFIBROMATOSIS TYPE-1 PATIENTS, OPTIC PATHWAY TUMORS, OF-THE-LITERATURE, SOUTH EAST WALES, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, CARDIOVASCULAR MALFORMATIONS, GENE, DELETIONS, STANDARDS

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/7082495Test; http://hdl.handle.net/1854/LU-7082495Test; http://dx.doi.org/10.1002/humu.22832Test; https://biblio.ugent.be/publication/7082495/file/7082650Test

الإتاحة: https://doi.org/10.1002/humu.22832Test
https://biblio.ugent.be/publication/7082495Test
http://hdl.handle.net/1854/LU-7082495Test
https://biblio.ugent.be/publication/7082495/file/7082650Test

المؤلفون: Maass, Philipp G., Aydin, Atakan, Luft, Friedrich C., Schaechterle, Carolin, Weise, Anja, Stricker, Sigmar, Lindschau, Carsten, Vaegler, Martin, Qadri, Fatimunnisa, Toka, Hakan R., Schulz, Herbert, Krawitz, Peter M., Parkhomchuk, Dmitri, Hecht, Jochen, Hollfinger, Irene, Wefeld-Neuenfeld, Yvette, Bartels-Klein, Eireen, Muehl, Astrid, Kann, Martin, Schuster, Herbert, Chitayat, David, Bialer, Martin G., Wienker, Thomas F., Ott, Juerg, Rittscher, Katharina, Liehr, Thomas, Jordan, Jens, Plessis, Ghislaine, Tank, Jens, Mai, Knut, Naraghi, Ramin, Hodge, Russell, Hopp, Maxwell, Hattenbach, Lars O., Busjahn, Andreas, Rauch, Anita, Vandeput, Fabrice, Gong, Maolian, Rueschendorf, Franz, Huebner, Norbert, Haller, Hermann, Mundlos, Stefan, Bilginturan, Nihat, Movsesian, Matthew A., Klussmann, Enno, Toka, Okan, Baehring, Sylvia

المساهمون: Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Genetics & Heredity

وصف الملف: text/plain; application/pdf

العلاقة: Nature Genetics; https://doi.org/10.1038/ng.3302Test; http://hdl.handle.net/11655/14301Test; 47; 647; 653

الإتاحة: https://doi.org/10.1038/ng.3302Test
http://hdl.handle.net/11655/14301Test

المؤلفون: Hecht, Jochen, Busjahn, Andreas, Hattenbach, Lars O., Hopp, Maxwell, Hodge, Russell, Haller, Hermann, Naraghi, Ramin, Mai, Knut, Tank, Jens, Plessis, Ghislaine, Jordan, Jens, Liehr, Thomas, Rittscher, Katharina, Ott, Juerg, Gong, Maolian, Rauch, Anita, Vandeput, Fabrice, Movsesian, Matthew A., Klussmann, Enno, Toka, Okan, Baehring, Sylvia, Mundlos, Stefan, Bialer, Martin G., Chitayat, David, Schuster, Herbert, Kann, Martin, Bartels-Klein, Eireen, Wefeld-Neuenfeld, Yvette, Parkhomchuk, Dmitri, Toka, Hakan R., Qadri, Fatimunnisa, Vaegler, Martin, Lindschau, Carsten, Wienker, Thomas F., Stricker, Sigmar, Weise, Anja, Muehl, Astrid, Schaechterle, Carolin, Hollfinger, Irene, Maass, Philipp G., Bilginturan, Nihat, Krawitz, Peter M., Schulz, Herbert, Rueschendorf, Franz, Luft, Friedrich C., Aydin, Atakan, Huebner, Norbert

العلاقة: 12a35e76-c476-4edf-b70a-bdb4066b80c0; https://avesis.hacettepe.edu.tr/publication/details/12a35e76-c476-4edf-b70a-bdb4066b80c0/oaiTest

الإتاحة: https://doi.org/10.1038/ng.3302Test
https://avesis.hacettepe.edu.tr/publication/details/12a35e76-c476-4edf-b70a-bdb4066b80c0/oaiTest

المؤلفون: Bernstein, Donna L., Hülkova, Helena, Bialer, Martin G., Desnick, Robert J.

المصدر: Journal of Hepatology ; volume 58, issue 6, page 1230-1243 ; ISSN 0168-8278

مصطلحات موضوعية: Hepatology

الإتاحة: https://doi.org/10.1016/j.jhep.2013.02.014Test
https://api.elsevier.com/content/article/PII:S0168827813001360?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0168827813001360?httpAccept=text/plainTest

المؤلفون: Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve

المصدر: The American Journal of Human Genetics ; volume 90, issue 2, page 356-362 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.018Test
https://api.elsevier.com/content/article/PII:S0002929711005532?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929711005532?httpAccept=text/plainTest

المؤلفون: Schwartz, Charles E., May, Melanie M., Carpenter, Nancy J., Rogers, R. Curtis, Martin, Judith, Bialer, Martin G., Ward, Jewell, Sanabria, Javier, Marsa, Silvana, Lewis, James A., Echeverri, Roberto, Lubs, Herbert A., Voeller, Kytja, Simensen, Richard J., Stevenson, Roger E.

المصدر: The American Journal of Human Genetics ; volume 77, issue 1, page 41-53 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/431313Test
https://api.elsevier.com/content/article/PII:S0002929707609008?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707609008?httpAccept=text/plainTest