المؤلفون: Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

المصدر: Orphanet Journal of Rare Diseases. 8(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6r91w5r2

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المؤلفون: van Puijenbroek, Marjo, Nielsen, Maartje, Reinards, Tjitske H. C. M., Weiss, Marjan M., Wagner, Anja, Hendriks, Yvonne M. C., Vasen, Hans F. A., Tops, Carli M. J., Wijnen, Juul, van Wezel, Tom, Hes, Frederik J., Morreau, Hans

المصدر: Familial Cancer. March 2007 6(1):43-51

المؤلفون: Tamminga, Saskia, Stalman, Susanne E., Kamp, Gerdine A., Hendriks, Yvonne M. C., Knegt, A. C. Lia, Elting, M. W. Mariet

المساهمون: Other departments, Human Genetics

المصدر: Nederlands tijdschrift voor geneeskunde, 159. Bohn Stafleu van Loghum

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, nervous system diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::0eb6a207a1f20989e1c8a87683b9cee5
https://pure.amc.nl/en/publications/maternale-uniparentale-disomie-14-in-de-differentiaaldiagnose-bij-praderwillisyndroom(6444ed91-fa4e-4e9b-9c37-c3f866ecbd99).html

المؤلفون: Finken, Martijn J. J., Hendriks, Yvonne M. C., van der Voorn, J. Patrick, Veening, Margreet A., Lombardi, M. Paola, Rotteveel, Joost

المساهمون: Human Genetics

المصدر: Hormone research in paediatrics, 83(3), 211-216. S. Karger AG

مصطلحات موضوعية: urogenital system, urologic and male genital diseases, female genital diseases and pregnancy complications

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::158a765658bde94b4755f5c41f34df15
https://pure.amc.nl/en/publications/wt1-deletion-leading-to-severe-46xy-gonadal-dysgenesis-wilms-tumor-and-gonadoblastoma-case-report(e9996485-19ea-4758-9074-4e8126a405c2).html

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المؤلفون: Joustra SD; Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Isik E; Department of Paediatrics, Ankara Bilkent City Hospital, Ankara, Turkey., Wit JM; Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Catli G; Department of Paediatric Endocrinology, Izmir Katip Celebi University Faculty of Medicine, Izmir, Turkey.; Department of Paediatric Endocrinology, Istinye University Faculty of Medicine, Istanbul, Turkey., Anik A; Department of Paediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey., Haliloglu B; Department of Paediatric Endocrinology and Diabetology, Marmara University School of Medicine, Istanbul, Turkey., Kandemir N; Department of Paediatric Endocrinology, Hacettepe University, Faculty of Medicine, Ankara, Turkey., Ozsu E; Department of Paediatric Endocrinology and Diabetes, University of Ankara, Ankara, Turkey., Hendriks YMC; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., de Bruin C; Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Kant SG; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Campos-Barros A; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Rare Diseases Biomedical Research Network (CIBERER; U 753), ISCIII, Madrid, Spain., Challis RC; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Parry D; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Harley ME; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Jackson A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Losekoot M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

المصدر: Hormone research in paediatrics [Horm Res Paediatr] 2024 Jun 05, pp. 1-11. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE