학술논문
'학술논문'
에서 검색결과 645건 | 목록
1~10
Academic Journal
Antje Kampmeier; Elsa Leitão; Ilaria Parenti; Jasmin Beygo; Christel Depienne; Nuria C Bramswig; Tzung-Chien Hsieh; Alexandra Afenjar; Stefanie Beck-Wödl; Ute Grasshoff; Tobias B Haack; Emilia K Bijlsma; Claudia Ruivenkamp; Eva Lausberg; Miriam Elbracht; Maria K Haanpää; Hannele Koillinen; Uwe Heinrich; Imma Rost; Rami Abou Jamra; Denny Popp; Margarete Koch-Hogrebe; Kevin Rostasy; Vanesa López-González; María José Sanchez-Soler; Catarina Macedo; Ariane Schmetz; Carmen Steinborn; Sabine Weidensee; Hellen Lesmann; Felix Marbach; Pilar Caro; Christian P. Schaaf; Peter Krawitz; Dagmar Wieczorek; Frank J Kaiser; Alma Kuechler
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Academic Journal
Journal of medical genetics. 42(9):699-705
Academic Journal
Michael A. Levy; David B. Beck; Kay Metcalfe; Sofia Douzgou; Sivagamy Sithambaram; Trudie Cottrell; Muhammad Ansar; Jennifer Kerkhof; Cyril Mignot; Marie-Christine Nougues; Boris Keren; Hannah W. Moore; Renske Oegema; Jacques C. Giltay; Marleen Simon; Richard H. van Jaarsveld; Jessica Bos; Mieke van Haelst; M. Mahdi Motazacker; Elles M. J. Boon; Gijs W. E. Santen; Claudia A. L. Ruivenkamp; Marielle Alders; Teresa Romeo Luperchio; Leandros Boukas; Keri Ramsey; Vinodh Narayanan; G. Bradley Schaefer; Roberto Bonasio; Kimberly F. Doheny; Roger E. Stevenson; Sidharth Banka; Bekim Sadikovic; Jill A. Fahrner
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Academic Journal
Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly AF; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje WM; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen LI; Juusola, Jane; Foss, Kimberly; Enns, Gregory M; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia AL; Hahn, Sihoun; Brownstein, Catherine A; Xia, Fan; Schmitt, Sébastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R; Thies, Jenny; Peart-Vissers, Lisenka ELM; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M; Dubourg, Christèle; Network, Undiagnosed Diseases; Tan, Wen-Hann; Verbeek, Nienke E; Granzow, Martin; Santen, Gijs WE; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W; Kleefstra, Tjitske; Cogné, Benjamin; HUGO, GEM; Study, Deciphering Developmental Disorders; Petrovski, Slavé; Retterer, Kyle
American Journal of Human Genetics. 101(5)
Academic Journal
Khaled Atmar; Claudia A. L. Ruivenkamp; Louise Hooimeijer; Esther A. R. Nibbeling; Corien L. Eckhardt; Elise J. Huisman; Arjan C. Lankester; Marije Bartels; Gijs W. E. Santen; Frans J. Smiers; Mirjam van der Burg; Alexander B. Mohseny
Frontiers in Immunology, Vol 13 (2022)
Academic Journal
Hui Guo; Elisa Bettella; Paul C. Marcogliese; Rongjuan Zhao; Jonathan C. Andrews; Tomasz J. Nowakowski; Madelyn A. Gillentine; Kendra Hoekzema; Tianyun Wang; Huidan Wu; Sharayu Jangam; Cenying Liu; Hailun Ni; Marjolein H. Willemsen; Bregje W. van Bon; Tuula Rinne; Servi J. C. Stevens; Tjitske Kleefstra; Han G. Brunner; Helger G. Yntema; Min Long; Wenjing Zhao; Zhengmao Hu; Cindy Colson; Nicolas Richard; Charles E. Schwartz; Corrado Romano; Lucia Castiglia; Maria Bottitta; Shweta U. Dhar; Deanna J. Erwin; Lisa Emrick; Boris Keren; Alexandra Afenjar; Baosheng Zhu; Bing Bai; Pawel Stankiewicz; Kristin Herman; University of Washington Center for Mendelian Genomics; Saadet Mercimek-Andrews; Jane Juusola; Amy B. Wilfert; Rami Abou Jamra; Benjamin Büttner; Heather C. Mefford; Alison M. Muir; Ingrid E. Scheffer; Brigid M. Regan; Stephen Malone; Jozef Gecz; Jan Cobben; Marjan M. Weiss; Quinten Waisfisz; Emilia K. Bijlsma; Mariëtte J. V. Hoffer; Claudia A. L. Ruivenkamp; Stefano Sartori; Fan Xia; Jill A. Rosenfeld; Raphael A. Bernier; Michael F. Wangler; Shinya Yamamoto; Kun Xia; Alexander P. A. Stegmann; Hugo J. Bellen; Alessandra Murgia; Evan E. Eichler
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Academic Journal
Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Marcelis C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Willemsen MH; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Zwijnenburg P; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction & development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Reimand T; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Berland S; Department of Mental Health, Møre og Romsdal Hospital Trust, Ålesund, Norway.; Liahjell EB; Department of Mental Health, Møre og Romsdal Hospital Trust, Ålesund, Norway.; Bojovic O; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bonati MT; Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.; Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics Radboudumc, Donders Center for Medical Neuroscience, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Periodical
Hansson, Kerstin; Dauwerse, Hans; Gijsbers, Antoinet; van Diepen, Mireille; Ruivenkamp, Claudia; Kant, Sarina
American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1858-1861, 4p
Academic Journal
Liselot van der Laan; Kathleen Rooney; Mariëlle Alders; Raissa Relator; Haley McConkey; Jennifer Kerkhof; Michael A. Levy; Peter Lauffer; Mio Aerden; Miel Theunis; Eric Legius; Matthew L. Tedder; Lisenka E. L. M. Vissers; Saskia Koene; Claudia Ruivenkamp; Mariette J. V. Hoffer; Dagmar Wieczorek; Nuria C. Bramswig; Theresia Herget; Vanesa López González; Fernando Santos-Simarro; Pernille M. Tørring; Anne-Sophie Denomme-Pichon; Bertrand Isidor; Boris Keren; Sophie Julia; Elise Schaefer; Christine Francannet; Pierre-Yves Maillard; Mala Misra-Isrie; Hilde Van Esch; Marcel M. A. M. Mannens; Bekim Sadikovic; Mieke M. van Haelst; Peter Henneman
International Journal of Molecular Sciences, Vol 23, Iss 22, p 13664 (2022)
Academic Journal
Vincenzo Salpietro; Christine L. Dixon; Hui Guo; Oscar D. Bello; Jana Vandrovcova; Stephanie Efthymiou; Reza Maroofian; Gali Heimer; Lydie Burglen; Stephanie Valence; Erin Torti; Moritz Hacke; Julia Rankin; Huma Tariq; Estelle Colin; Vincent Procaccio; Pasquale Striano; Kshitij Mankad; Andreas Lieb; Sharon Chen; Laura Pisani; Conceicao Bettencourt; Roope Männikkö; Andreea Manole; Alfredo Brusco; Enrico Grosso; Giovanni Battista Ferrero; Judith Armstrong-Moron; Sophie Gueden; Omer Bar-Yosef; Michal Tzadok; Kristin G. Monaghan; Teresa Santiago-Sim; Richard E. Person; Megan T. Cho; Rebecca Willaert; Yongjin Yoo; Jong-Hee Chae; Yingting Quan; Huidan Wu; Tianyun Wang; Raphael A. Bernier; Kun Xia; Alyssa Blesson; Mahim Jain; Mohammad M. Motazacker; Bregje Jaeger; Amy L. Schneider; Katja Boysen; Alison M. Muir; Candace T. Myers; Ralitza H. Gavrilova; Lauren Gunderson; Laura Schultz-Rogers; Eric W. Klee; David Dyment; Matthew Osmond; Mara Parellada; Cloe Llorente; Javier Gonzalez-Peñas; Angel Carracedo; Arie Van Haeringen; Claudia Ruivenkamp; Caroline Nava; Delphine Heron; Rosaria Nardello; Michele Iacomino; Carlo Minetti; Aldo Skabar; Antonella Fabretto; SYNAPS Study Group; Miquel Raspall-Chaure; Michael Chez; Anne Tsai; Emily Fassi; Marwan Shinawi; John N. Constantino; Rita De Zorzi; Sara Fortuna; Fernando Kok; Boris Keren; Dominique Bonneau; Murim Choi; Bruria Benzeev; Federico Zara; Heather C. Mefford; Ingrid E. Scheffer; Jill Clayton-Smith; Alfons Macaya; James E. Rothman; Evan E. Eichler; Dimitri M. Kullmann; Henry Houlden
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
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[검색어] Ruivenkamp, C.
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