المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14x4x4wp

المؤلفون: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra^{Aff4, Aff5}, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H.^{Aff11, Aff12}, van Dijck, Anke, Doummar, Diane^{Aff13, Aff14, Aff15}, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan^{Aff19, Aff20}, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu^{Aff22, Aff35}, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline^{Aff23, Aff25}, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary^{Aff3, Aff36}, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg^{Aff11, Aff29, Aff30}, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A.^{Aff1, Aff34}, Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.^Aff1

المصدر: European Journal of Human Genetics. 27(5):738-746

المؤلفون: Smits, Jeroen J.^{Aff1, Aff2}, Oostrik, Jaap^{Aff1, Aff2}, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, DOOFNL Consortium, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit^{Aff1, Aff9}, Yntema, Helger G.^{Aff2, Aff9}, Pennings, Ronald J. E.^{Aff1, Aff2}, Kremer, Hannie^{Aff1, Aff2, Aff9}

المصدر: Human Genetics. 138(1):61-72

المؤلفون: Haring, Martijn P. D., Vriesendorp, Titia M., Klein Wassink‐Ruiter, Jolien S., Haas, Robbert J., Gouw, Annette S. H., Meijer, Vincent E.

المصدر: Liver International; Nov2019, Vol. 39 Issue 11, p2042-2045, 4p, 1 Color Photograph

مصطلحات موضوعية: HEPATOCYTE nuclear factors, HEPATIC veno-occlusive disease, METABOLIC disorders, DIABETES, LIVER biopsy, DIAGNOSIS

المؤلفون: DOOFNL Consortium, Beynon, Andy J., Admiraal, Ronald J. C., Lanting, Cornelis P., Smits, Jeroen J., Oostrik, Jaap, Pennings, Ronald J. E., Kremer, Hannie, Schraders, Margit, Yntema, Helger G., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse

المصدر: Human Genetics; Jan2019, Vol. 138 Issue 1, p61-72, 12p

مصطلحات موضوعية: HEARING disorders, CELL membranes, CALCIUM ions, BIOLOGICAL variation, HOMEOSTASIS, HAIR cells

المؤلفون: Rodan, Lance H., Anyane‐Yeboa, Kwame, Chong, Karen, Klein Wassink‐Ruiter, Jolien S., Wilson, Ashley, Smith, Lacey, Kothare, Sanjeev V., Rajabi, Farrah, Blaser, Susan, Ni, Min, DeBerardinis, Ralph J., Poduri, Annapurna, Berry, Gerard T.

المصدر: American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2554-2560, 7p

المؤلفون: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.

المصدر: European Journal of Human Genetics: EJHG; May 2019, Vol. 27 Issue: 5 p738-746, 9p

المؤلفون: Kerstjens-Frederikse, Wilhelmina S., van de Laar, Ingrid M.B.H., Vos, Yvonne J., Verhagen, Judith M.A., Berger, Rolf M.F., Lichtenbelt, Klaske D., Klein Wassink-Ruiter, Jolien S., van der Zwaag, Paul A., du Marchie Sarvaas, Gideon J., Bergman, Klasien A., Bilardo, Catia M., Roos-Hesselink, Jolien W., Janssen, Johan H.P., Frohn-Mulder, Ingrid M., van Spaendonck-Zwarts, Karin Y., van Melle, Joost P., Hofstra, Robert M.W., Wessels, M.W.

المصدر: Genetics in Medicine; September 2016, Vol. 18 Issue: 9 p914-923, 10p

المؤلفون: Stevens, Servi J.C., van Ravenswaaij-Arts, Conny M.A., Janssen, Jannie W.H., Klein Wassink-Ruiter, Jolien S., van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P.A., Smeets, Eric E.J.G.L., Engelen, John J.M.

المصدر: American Journal of Medical Genetics. Part A; Nov2011, Vol. 155A Issue 11, p2739-2745, 7p

المؤلفون: Pott, Jan W. R., Klein Wassink-Ruiter, Jolien S., van Vliet, Annemiek

المصدر: Acta Ophthalmologica (1755375X); May2012, Vol. 90 Issue 3, pe252-e253, 2p

مصطلحات موضوعية: LETTERS to the editor, METHYLMALONIC acid, VITAMIN B12 deficiency