المؤلفون: Rad, Aboulfazl, Bartsch, Oliver, Bakhtiari, Somayeh, Zhu, Changlian, Xu, Yiran, Monteiro, Fabíola P, Kok, Fernando, Vulto-van Silfhout, Anneke T, Kruer, Michael C, Bowl, Michael R, Vona, Barbara

المصدر: Rad , A , Bartsch , O , Bakhtiari , S , Zhu , C , Xu , Y , Monteiro , F P , Kok , F , Vulto-van Silfhout , A T , Kruer , M C , Bowl , M R & Vona , B 2024 , ' Expanding the spectrum of phenotypes for MPDZ : Report of four unrelated families and review of the literature ' , Clinical Genetics . https://doi.org/10.1111/cge.14563Test

مصطلحات موضوعية: MPDZ, hearing loss, hydrocephaly, phenotypic heterogeneity, spasticity

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/a90f2779-829b-4c28-a2e5-b4595c53533fTest

الإتاحة: https://doi.org/10.1111/cge.14563Test
https://cris.maastrichtuniversity.nl/en/publications/a90f2779-829b-4c28-a2e5-b4595c53533fTest

المؤلفون: Dingemans, Alexander J.M., Hinne, Max, Truijen, Kim M.G., Goltstein, Lia, Van Reeuwijk, Jeroen, De Leeuw, Nicole, Schuurs-hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., Den Hoed, Joery, De Boer, Elke, Coenen-van Der Spek, Jet, Jansen, Sandra, Van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E., Van Esch, Hilde, Lyon, Gholson J., Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, Van Der Sluijs, Pleuntje J., Santen, Gijs W.E., Kooy, R. Frank, Van Gerven, Marcel A.J., Vissers, Lisenka E.L.M., De Vries, Bert B.A.

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/480825/1/PhenoScore_manuscript_final.pdfTest; https://eprints.soton.ac.uk/480825/2/s41588_023_01469_w.pdfTest; Dingemans, Alexander J.M., Hinne, Max, Truijen, Kim M.G., Goltstein, Lia, Van Reeuwijk, Jeroen, De Leeuw, Nicole, Schuurs-hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., Den Hoed, Joery, De Boer, Elke, Coenen-van Der Spek, Jet, Jansen, Sandra, Van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E., Van Esch, Hilde, Lyon, Gholson J., Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, Van Der Sluijs, Pleuntje J., Santen, Gijs W.E., Kooy, R. Frank, Van Gerven, Marcel A.J., Vissers, Lisenka E.L.M. and De Vries, Bert B.A. (2023) PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics, 55 (9), 1598-1607. (doi:10.1038/s41588-023-01469-w ).

الإتاحة: https://doi.org/10.1038/s41588-023-01469-wTest
https://eprints.soton.ac.uk/480825Test/
https://eprints.soton.ac.uk/480825/1/PhenoScore_manuscript_final.pdfTest
https://eprints.soton.ac.uk/480825/2/s41588_023_01469_w.pdfTest

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Y V, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander P A, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Maroofian, Reza

المصدر: Cali , E , Suri , M , Scala , M , Ferla , M P , Alavi , S , Faqeih , E A , Bijlsma , E K , Wigby , K M , Baralle , D , Mehrjardi , M Y V , Schwab , J , Platzer , K , Steindl , K , Hashem , M , Jones , M , Niyazov , D M , Jacober , J , Littlejohn , R O , Weis , D , Zadeh , N , Rodan , L , Goldenberg , A , Lecoquierre , F ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.016Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest

المؤلفون: Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth

المصدر: nlmid: 101653440 ; essn: 2375-2548

مصطلحات موضوعية: Animals, Humans, Zebrafish, Signal Transduction, Protein Serine-Threonine Kinases, Intracellular Signaling Peptides and Proteins

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/349629Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/349629Test

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100004 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.100004Test
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/plainTest

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O'Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

المصدر: van der Sluijs , P J , Joosten , M , Alby , C , Attié-Bitach , T , Gilmore , K , Dubourg , C , Fradin , M , Wang , T , Kurtz-Nelson , E C , Ahlers , K P , Arts , P , Barnett , C P , Ashfaq , M , Baban , A , van den Born , M , Borrie , S , Busa , T , Byrne , A , Carriero , M , Cesario , C , Chong , K , Cueto-González , A M , Dempsey , ....

العلاقة: https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.04.010Test
https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796Test
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxKTest

المؤلفون: Dingemans, Alexander J. M., Truijen, Kim M. G., Kim, Jung-Hyun, Alacam, Zahide, Faivre, Laurence, Collins, Kathleen M., Gerkes, Erica H., van Haelst, Mieke, van de Laar, Ingrid M. B. H., Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitanska-Pliszka, Edyta, Plomp, Astrid S., Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E., Verberne, Eline A., Vulto-van Silfhout, Anneke T., Wilsterman, Marlon E. F., Ahn, Eun-Young Erin, de Vries, Bert B. A., Vissers, Lisenka E. L. M.

المصدر: Dingemans , A J M , Truijen , K M G , Kim , J-H , Alacam , Z , Faivre , L , Collins , K M , Gerkes , E H , van Haelst , M , van de Laar , I M B H , Lindstrom , K , Nizon , M , Pauling , J , Heropolitanska-Pliszka , E , Plomp , A S , Racine , C , Sachdev , R , Sinnema , M , Skranes , J , Veenstra-Knol , H E , Verberne , E A , Vulto-van Silfhout , A ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://pure.eur.nl/en/publications/039870f1-f627-4e9d-b8ed-ad608b52728bTest

الإتاحة: https://doi.org/10.1038/s41431-021-00960-4Test
https://pure.eur.nl/en/publications/039870f1-f627-4e9d-b8ed-ad608b52728bTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:000695759400001&DestLinkType=FullRecord&DestApp=WOSTest
http://www.scopus.com/inward/record.url?scp=85115199905&partnerID=8YFLogxKTest

المؤلفون: Meuwissen, Marije, Verstraeten, Aline, Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Bastiaansen, Maaike, Mateiu, Ligia, Nemegeer, Merlijn, Meester, Josephina, Afenjar, Alexandra, Amaral, Michelle, Ballhausen, Diana, Barnett, Sarah, Barth, Magalie, Asselbergh, Bob, Spaas, Katrien, Heeman, Bavo, Bassetti, Jennifer, Blackburn, Patrick, Schaer, Marie, Blanc, Xavier, Zoete, Vincent, Casas, Kari, Courtin, Thomas, Doummar, Diane, Guerry, Frédéric, Keren, Boris, Pappas, John, Rabin, Rachel, Begtrup, Amber, Shinawi, Marwan, Vulto-van Silfhout, Anneke T, Kleefstra, Tjitske, Wagner, Matias, Ziegler, Alban, Schaefer, Elise, Gerard, Benedicte, De Bie, Charlotte I, Holwerda, Sjoerd J B, Abbot, Mary Alice, Antonarakis, Stylianos E, Loeys, Bart

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000827504100020

الإتاحة: https://doi.org/10.1016/J.GIM.2022.04.003Test
https://hdl.handle.net/10067/1881670151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:12275Test

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad YV, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander PA, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, McLean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160152Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10160152Test/

المؤلفون: Dingemans, Alexander J.M., Hinne, Max, Jansen, Sandra, van Reeuwijk, Jeroen, de Leeuw, Nicole, Pfundt, Rolph, van Bon, Bregje W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., van Gerven, Marcel A.J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.

المصدر: Genetics in Medicine ; volume 24, issue 3, page 645-653 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2021.10.019Test
https://api.elsevier.com/content/article/PII:S1098360021053715?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021053715?httpAccept=text/plainTest