المؤلفون: Fischer, Jan, Alders, Mariëlle, Mannens, Marcel M. A. M., Genevieve, David, Hackmann, Karl, Schröck, Evelin, Sadikovic, Bekim, Porrmann, Joseph

المصدر: Clinical Epigenetics; 1/13/2025, Vol. 17 Issue 1, p1-6, 6p

المؤلفون: Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

المصدر: European Journal of Human Genetics (2023) (In press).

مصطلحات موضوعية: Clinical genetics, Genetics research

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10170574/1/Maroofian_Broadening%20the%20phenotypic%20and%20molecular%20spectrum%20of%20FINCA%20syndrome_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10170574/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10170574/1/Maroofian_Broadening%20the%20phenotypic%20and%20molecular%20spectrum%20of%20FINCA%20syndrome_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10170574/

المؤلفون: Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P., Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F., Tucker, Stephen J.

المساهمون: RCUK | Biotechnology and Biological Sciences Research Council, Wellcome Trust, Deutsche Forschungsgemeinschaft

المصدر: Nature Genetics ; volume 54, issue 10, page 1534-1543 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/s41588-022-01185-x
https://www.nature.com/articles/s41588-022-01185-x.pdf
https://www.nature.com/articles/s41588-022-01185-x

المؤلفون: Burns, William, Bird, Lynne, M, Heron, Delphine, Keren, Boris, Ramachandra, Divya, Thiffault, Isabelle, del Viso, Florencia, Amudhavalli, Shivarajan, Engleman, Kendra, Parenti, Ilaria, Kaiser, Frank, J, Wierzba, Jolanta, Riedhammer, Korbinian, M, Liptay, Susanne, Zadeh, Neda, Porrmann, Joseph, Fischer, Andrea, Gösswein, Sophie, Mclaughlin, Heather, M, Telegrafi, Aida, Langley, Katherine, G, Steet, Richard, Louie, Raymond, J, Lyons, Michael, J

المساهمون: Red Hat Inc., The Greenwood Genetic Center, University of California (UC), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Advocate Hope Children's Hospital, Children's Mercy Hospital Kansas City, Universität Duisburg-Essen = University of Duisburg-Essen Essen, Medical University of Gdańsk, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Genetics Center, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Invitae Corporation, GeneDx Gaithersburg, MD, USA

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: neurodevelopment, RNA helicase, DDX23, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: hal-03251630; https://hal.sorbonne-universite.fr/hal-03251630; https://hal.sorbonne-universite.fr/hal-03251630/document; https://hal.sorbonne-universite.fr/hal-03251630/file/ajmg.a.62359.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-03251630
https://hal.sorbonne-universite.fr/hal-03251630/document
https://hal.sorbonne-universite.fr/hal-03251630/file/ajmg.a.62359.pdf
https://doi.org/10.1002/ajmg.a.62359

المؤلفون: Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas

المصدر: PLOS ONE ; volume 15, issue 9, page e0239959 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0239959
https://dx.plos.org/10.1371/journal.pone.0239959

المؤلفون: Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, Grützmann, Konrad, Krüger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wimberger, Pauline, Baretton, Gustavo, Schröck, Evelin, Aust, Daniela, Klink, Barbara

المصدر: BMC Cancer ; volume 19, issue 1 ; ISSN 1471-2407

الاتاحة: http://dx.doi.org/10.1186/s12885-019-5584-6
http://link.springer.com/content/pdf/10.1186/s12885-019-5584-6.pdf
http://link.springer.com/article/10.1186/s12885-019-5584-6/fulltext.html

المؤلفون: Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas

المساهمون: Kaya, Namik

المصدر: PLOS ONE ; volume 13, issue 8, page e0201041 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0201041
http://dx.plos.org/10.1371/journal.pone.0201041

المؤلفون: Lenk, Janine, Porrmann, Joseph, Smitka, Martin, Eger, Ines, Schröck, Evelin, Hackmann, Karl, Herber, Robert, Raiskup, Frederik, Tzschach, Andreas

المصدر: Ophthalmic Genetics ; volume 39, issue 5, page 645-647 ; ISSN 1381-6810 1744-5094

الاتاحة: http://dx.doi.org/10.1080/13816810.2018.1502792
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1502792

المؤلفون: Sczakiel, Henrike L., Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B., Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G., Lupski, James R., Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

المصدر: European Journal of Human Genetics: EJHG; August 2023, Vol. 31 Issue: 8 p905-917, 13p

المؤلفون: Pirozzi, Filomena, Lee, Benson, Horsley, Nicole, Burkardt, Deepika D., Dobyns, William B., Graham, John M., Dentici, Maria L., Cesario, Claudia, Schallner, Jens, Porrmann, Joseph, Di Donato, Nataliya, Sanchez‐Lara, Pedro A., Mirzaa, Ghayda M.

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 9, page 2719-2738 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62362
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62362
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62362

المؤلفون: Porrmann, Joseph, Betcheva-Krajcir, Elitza, Di Donato, Nataliya, Kahlert, Anne-Karin, Schallner, Jens, Rump, Andreas, Schroeck, Evelin, Dobritzsch, Doreen, 1972, Roelofsen, Jeroen, van Kuilenburg, Andre B. P., Tzschach, Andreas

المصدر: American Journal of Medical Genetics. Part A. 173(10):2736-2742

مصطلحات موضوعية: hyperuricemia, phosphoribosylpyrophosphate synthetase superactivity, PRPS1

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-336298

المؤلفون: Porrmann, Joseph, Rump, Andreas, Hackmann, Karl, Di Donato, Nataliya, Kahlert, Anne-Karin, Wagner, Johannes, Jahn, Arne, Eger, Ines, Flury, Monika, Schrock, Evelin, Tzschach, Andreas, Gieldon, Laura

المصدر: European Journal of Medical Genetics ; volume 62, issue 1, page 70-72 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2018.05.006
https://api.elsevier.com/content/article/PII:S1769721218300673?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721218300673?httpAccept=text/plain

المؤلفون: Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, GrĂźtzmann, Konrad, KrĂźger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wimberger, Pauline, Baretton, Gustavo, SchrĂśck, Evelin, Aust, Daniela, Klink, Barbara

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa65ee953b245aea735079c54c1a1734

المؤلفون: Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P., Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F., Tucker, Stephen J.

المصدر: Nature Genetics; 20220101, Issue: Preprints p1-10, 10p

المؤلفون: Kahlert, Anne-Karin, Weidensee, Sabine, Mackenroth, Luisa, Porrmann, Joseph, Rump, Andreas, Di Donato, Nataliya, Schröck, Evelin, Tzschach, Andreas

المصدر: Clinical Dysmorphology ; volume 26, issue 4, page 205-208 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000184
https://journals.lww.com/00019605-201710000-00003

المؤلفون: Miehle, Konstanze, Porrmann, Joseph, Mitter, Diana, Stumvoll, Michael, Glaser, Christiane, Fasshauer, Mathias, Hoffmann, Katrin

المساهمون: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung

المصدر: Clinical Endocrinology ; volume 84, issue 1, page 141-148 ; ISSN 0300-0664 1365-2265

الاتاحة: http://dx.doi.org/10.1111/cen.12837
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcen.12837
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.12837

المؤلفون: Miehle, Konstanze, Porrmann, Joseph, Mitter, Diana, Stumvoll, Michael, Glaser, Christiane, Fasshauer, Mathias, Hoffmann, Katrin

المصدر: Clinical Endocrinology; Jan2016, Vol. 84 Issue 1, p141-148, 8p

مصطلحات موضوعية: LIPODYSTROPHY, LIPID metabolism disorders, PEROXISOME proliferator-activated receptors, MICROBODIES, ADIPOSE tissues