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1دورية أكاديمية
المؤلفون: Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange-Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan
المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/s41431-023-01530-6Test
https://www.nature.com/articles/s41431-023-01530-6.pdfTest
https://www.nature.com/articles/s41431-023-01530-6Test -
2دورية أكاديمية
المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, van den Born, Myrthe, Wilke, Martina, Joosten, Marieke, Stuurman, Kyra E., Hoefsloot, Lies H., Van Opstal, Diane, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.
المصدر: European Journal of Medical Genetics ; volume 67, page 104884 ; ISSN 1769-7212
مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104884Test
https://api.elsevier.com/content/article/PII:S1769721223001908?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721223001908?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Niggl, Eva, Bouman, Arjan, Briere, Lauren C., Hoogenboezem, Remco M., Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D.R.O., Elgersma, Minetta, Bain, Jennifer, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J., Bertrand, Miriam, Blesson, Alyssa E., Clayton-Smith, Jill, Ellingford, Jamie M., Gillentine, Madelyn A., Goodloe, Dana H., Haack, Tobias B., Jain, Mahim, Krantz, Ian, Luu, Sharon M., McPheron, Molly, Muss, Candace L., Raible, Sarah E., Robin, Nathaniel H., Spiller, Michael, Starling, Susan, Sweetser, David A., Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, van Esbroeck, Annelot C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N.
المساهمون: Medical Research Council, National Institute for Health and Care Research, Wellcome Trust, Heart of England NHS Foundation Trust, Cancer Research UK
المصدر: The American Journal of Human Genetics ; volume 110, issue 8, page 1414-1435 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.07.005Test
https://api.elsevier.com/content/article/PII:S0002929723002446?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723002446?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.
المصدر: The American Journal of Human Genetics ; volume 110, issue 2, page 251-272 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.015Test
https://api.elsevier.com/content/article/PII:S0002929722005493?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722005493?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago
المصدر: Journal of Medical Genetics ; volume 59, issue 3, page 305-312 ; ISSN 0022-2593 1468-6244
مصطلحات موضوعية: Genetics (clinical), Genetics
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6دورية أكاديمية
المؤلفون: Dogterom, Emma J., Wagenmakers, Margreet A.E.M., Wilke, Martina, Demirdas, Serwet, Muschol, Nicole M., Pohl, Sandra, Meijden, Jan C. van der, Rizopoulos, Dimitris, Ploeg, Ans T. van der, Oussoren, Esmée
المصدر: Genetics in Medicine ; volume 23, issue 11, page 2047-2056 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-021-01244-4Test
https://www.nature.com/articles/s41436-021-01244-4.pdfTest
https://www.nature.com/articles/s41436-021-01244-4Test
https://api.elsevier.com/content/article/PII:S1098360021051704?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021051704?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara
المساهمون: Agence nationale de la recherche
المصدر: The American Journal of Human Genetics ; volume 108, issue 6, page 1138-1150 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.007Test
https://api.elsevier.com/content/article/PII:S0002929721001385?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721001385?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, van den Born, Myrthe, Wilke, Martina, Joosten, Marieke, Stuurman, Kyra E., Hoefsloot, Lies H., Van Opstal, Diane, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.
المصدر: European Journal of Medical Genetics ; volume 66, issue 10, page 104844 ; ISSN 1769-7212
مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104844Test
https://api.elsevier.com/content/article/PII:S1769721223001507?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721223001507?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Claire Y., Severino, Mariasavina, Divizia, Maria Teresa, Striano, Pasquale, Ordonez-Herrera, Natalia, Alhashem, Amal, Al Fares, Ahmed, Al Ghamdi, Malak, Rolfs, Arndt, Bauer, Peter, Demmers, Jeroen, Verheijen, Frans W., Wilke, Martina, van Slegtenhorst, Marjon, van der Spek, Peter J., Seri, Marco, Jansen, Anna C., Stottmann, Rolf W., Hufnagel, Robert B., Hopkin, Robert J., Aljeaid, Deema, Wiszniewski, Wojciech, Gawlinski, Pawel, Laure-Kamionowska, Milena, Alkuraya, Fowzan S., Akleh, Hanah, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Zaki, Maha S., Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Davidov, Bella, Basel-Salmon, Lina, Bazak, Lily, Shahar, Noa Ruhrman, Bertoli-Avella, Aida, Mirzaa, Ghayda M., Dobyns, William B., Pippucci, Tommaso
المساهمون: ZonMW Top, National Institute of Neurological Disorders and Stroke, Jordan’s Guardian Angels, Broad Institute, NIH, National Science Centre, Poland, FWO
المصدر: The American Journal of Human Genetics ; volume 105, issue 4, page 689-705 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.08.006Test
https://api.elsevier.com/content/article/PII:S000292971930309X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971930309X?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.
المساهمون: NIH Medical Scientist Training Program Training Grant, NIH Cellular and Molecular Biology Training Grant, European Research Council Advanced Grant, European Leukodystrophies Association, NIH F31 NRSA, Michigan Pre-Doctoral Training in Genetics Program, NHGRI Intramural Research Program of the National Institutes of Health, Common Fund from the NIH Office of the Director, National Institute of General Medical Sciences, Erasmus MC Mrace, ZonMW Top
المصدر: The American Journal of Human Genetics ; volume 104, issue 3, page 520-529 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.01.006Test
https://api.elsevier.com/content/article/PII:S0002929719300060?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719300060?httpAccept=text/plainTest
