학술논문
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'학술논문'
에서 검색결과 170건 | 목록
1~20
Academic Journal
Julia von Schnurbein; Claire Adams; Baris Akinci; Giovanni Ceccarini; Maria Rosaria D’Apice; Alessandra Gambineri; Raoul C. M. Hennekam; Isabelle Jeru; Giovanna Lattanzi; Konstanze Miehle; Gabriele Nagel; Giuseppe Novelli; Ferruccio Santini; Ermelinda Santos Silva; David B. Savage; Paolo Sbraccia; Jannik Schaaf; Ekaterina Sorkina; George Tanteles; Marie-Christine Vantyghem; Camille Vatier; Corinne Vigouroux; Elena Vorona; David Araújo-Vilar; Martin Wabitsch
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
Iméze Jorieke Hieltjes; Charlotte M. W. Gaasterland; Roel Bakx; Silvia C. W. van Breukelen; Robbert J. H. Ensink; Charlotte van Esch; Raoul C. M. Hennekam; Ilse van Herk; Marieke Hermsen; Anja M. C. Horemans; Hester Rippen; Bart P. C. van de Warrenburg; Anne‐Marie van Wermeskerken; Johanna H. van der Lee
Clinical and Public Health Guidelines. 2
Academic Journal
Ileana Cristea; Hugo Abarca; Anne E. Christensen Mellgren; Milana Trubnykova; Roya Mehrasa; Dorien J. M. Peters; Gunnar Houge; Raoul C. M. Hennekam; Eyvind Rødahl; Ove Bruland; Cecilie Bredrup
FEBS Letters
Universidad Peruana de Ciencias Aplicadas (UPC)
Repositorio Academico-UPC
UPC-Institucional
Universidad Peruana de Ciencias Aplicadas
instacron:UPC
Universidad Peruana de Ciencias Aplicadas (UPC)
Repositorio Academico-UPC
UPC-Institucional
Universidad Peruana de Ciencias Aplicadas
instacron:UPC
Academic Journal
Ariana Kariminejad; Siavash Ghaderi‐Sohi; Soheila Gholami; Kimia Najafi; Roxana Kariminejad; Raoul C. M. Hennekam
American Journal of Medical Genetics Part A. 191:370-377
Academic Journal
Leslie G. Biesecker; Margaret P. Adam; Brian Hon‐Yin Chung; Kenjiro Kosaki; Leonie A. Menke; Susan M. White; John C. Carey; Raoul C. M. Hennekam
Biesecker, L G, Adam, M P, Chung, B H-Y, Kosaki, K, Menke, L A, White, S M, Carey, J C & Hennekam, R C M 2022, 'Elements of morphology : Standard terminology for the trunk and limbs', American Journal of Medical Genetics, Part A, vol. 188, no. 11, pp. 3191-3228. https://doi.org/10.1002/ajmg.a.62965
Academic Journal
Sofia Douzgou; Janet Dell’Oro; Cristina Rodriguez Fonseca; Alessandra Rei; Jo Mullins; Isabelle Jusiewicz; Sylvia Huisman; Brittany N. Simpson; Klea Vyshka; Donatella Milani; Oliver Bartsch; Didier Lacombe; Sixto García-Miñaúr; Raoul C. M. Hennekam
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Academic Journal
Nitash Zwaveling‐Soonawala; Saskia M. Maas; Marielle Alders; Charles B. Majoie; Eric Fliers; A. S. Paul van Trotsenburg; Raoul C. M. Hennekam
American Journal of Medical Genetics Part A. 173:2562-2565
Academic Journal
Emma M. Wade; Zandra A. Jenkins; Philip B. Daniel; Tim Morgan; Marie C. Addor; Lesley C. Adés; Debora Bertola; Axel Bohring; Erin Carter; Tae‐Joon Cho; Christa M. de Geus; Hans‐Christoph Duba; Elaine Fletcher; Kinga Hadzsiev; Raoul C. M. Hennekam; Chong A. Kim; Deborah Krakow; Eva Morava; Teresa Neuhann; David Sillence; Andrea Superti‐Furga; Hermine E. Veenstra‐Knol; Dagmar Wieczorek; Louise C. Wilson; David M. Markie; Stephen P. Robertson
American Journal of Medical Genetics Part A. 173:1739-1746
Academic Journal
Rumping, L, Hennekam, R C M, Alders, M & van Haelst, M M 2023, '“Hypothesis : Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome', European Journal of Human Genetics, vol. 31, no. 1, pp. 16-17. https://doi.org/10.1038/s41431-022-01175-x
Academic Journal
American Journal of Medical Genetics Part A. 176:1703-1705
Academic Journal
Marco Castori; CASCONE, PIERO; Michele Valiante; LAINO, LUIGI; IANNETTI, Giorgio; Raoul C. M. Hennekam; GRAMMATICO, Paola
American Journal of Medical Genetics Part A. :2810-2815
Academic Journal
Raoul C. M. Hennekam; Yolande van Bever; Johanna W. E. Oorthuys; R. C. M. Hennekam; J. W. E. Oorthuys
European Journal of Pediatrics. 155:311-314
Academic Journal
Fred Petrif; Rachel H. Giles; Hans G. Dauwerse; Jasper J. Saris; Raoul C. M. Hennekam; Mitsuo Masuno; Niels Tommerup; Gert-Jan B. van Ommen; Richard H. Goodman; Dorien J. M. Peters; Martijn H. Breuning
Nature. 376:348-351
Book
Alexander K. C. Leung; Marcus Schmitt; Christie P. Thomas; Cord Sunderkötter; Meinhard Schiller; Thomas Schwarz; Mark Berneburg; Alfried Kohlschütter; Lorenzo Cerroni; Haner Direskeneli; Kenneth Calamia; Gloria L. David; Darryl C. Zeldin; Bärbel Schütte; Lee A. Denson; Andreas Erhardt; Ralf Kubitz; Dieter Häussinger; Wendy M. Sealey; Donald M. Mock; Barry Wolf; Johannes Schumacher; Peter Propping; Dieter Metze; Andrew L. Wong; Markus Hengstschläger; Whitney A. High; Kenneth R. Shroyer; M. Elizabeth McCready; Dennis E. Bulman; Ali R. Afzal; David B. Everman; Claude Stoll; Sukran Darcan; Yu Ru Kou; You Shuei Lin; Yoichi Suzuki; Keiya Tada; Susan Kupka; Wolfgang Dietmaier; Arndt Hartmann; Raoul C. M. Hennekam; John A. Belperio; Michael P. Keane; M. Iain Smith; Robert M. Strieter; Nestor A. Molfino; Francesca Sciandra; Tom Rossenbacker; Silvia G. Priori; Marco Senzolo; Christos Triantos; Dimitrios Samonakis; Evangelos Cholongitas; Andrew K. Burroughs; Marco Mura; Markus Braun-Falco; Silke Hofmann; Leena Bruckner-Tuderman
Encyclopedia of Molecular Mechanisms of Disease ISBN: 9783540671367
Book
Alexander K. C. Leung; Marcus Schmitt; Christie P. Thomas; Cord Sunderkötter; Meinhard Schiller; Thomas Schwarz; Mark Berneburg; Alfried Kohlschütter; Lorenzo Cerroni; Haner Direskeneli; Kenneth Calamia; Gloria L. David; Darryl C. Zeldin; Bärbel Schütte; Lee A. Denson; Andreas Erhardt; Ralf Kubitz; Dieter Häussinger; Wendy M. Sealey; Donald M. Mock; Barry Wolf; Johannes Schumacher; Peter Propping; Dieter Metze; Andrew L. Wong; Markus Hengstschläger; Whitney A. High; Kenneth R. Shroyer; M. Elizabeth McCready; Dennis E. Bulman; Ali R. Afzal; David B. Everman; Claude Stoll; Sukran Darcan; Yu Ru Kou; You Shuei Lin; Yoichi Suzuki; Keiya Tada; Susan Kupka; Wolfgang Dietmaier; Arndt Hartmann; Raoul C. M. Hennekam; John A. Belperio; Michael P. Keane; M. Iain Smith; Robert M. Strieter; Nestor A. Molfino; Francesca Sciandra; Tom Rossenbacker; Silvia G. Priori; Marco Senzolo; Christos Triantos; Dimitrios Samonakis; Evangelos Cholongitas; Andrew K. Burroughs; Marco Mura; Markus Braun-Falco; Silke Hofmann; Leena Bruckner-Tuderman
Encyclopedia of Molecular Mechanisms of Disease ISBN: 9783540671367
Book
Alexander K. C. Leung; Marcus Schmitt; Christie P. Thomas; Cord Sunderkötter; Meinhard Schiller; Thomas Schwarz; Mark Berneburg; Alfried Kohlschütter; Lorenzo Cerroni; Haner Direskeneli; Kenneth Calamia; Gloria L. David; Darryl C. Zeldin; Bärbel Schütte; Lee A. Denson; Andreas Erhardt; Ralf Kubitz; Dieter Häussinger; Wendy M. Sealey; Donald M. Mock; Barry Wolf; Johannes Schumacher; Peter Propping; Dieter Metze; Andrew L. Wong; Markus Hengstschläger; Whitney A. High; Kenneth R. Shroyer; M. Elizabeth McCready; Dennis E. Bulman; Ali R. Afzal; David B. Everman; Claude Stoll; Sukran Darcan; Yu Ru Kou; You Shuei Lin; Yoichi Suzuki; Keiya Tada; Susan Kupka; Wolfgang Dietmaier; Arndt Hartmann; Raoul C. M. Hennekam; John A. Belperio; Michael P. Keane; M. Iain Smith; Robert M. Strieter; Nestor A. Molfino; Francesca Sciandra; Tom Rossenbacker; Silvia G. Priori; Marco Senzolo; Christos Triantos; Dimitrios Samonakis; Evangelos Cholongitas; Andrew K. Burroughs; Marco Mura; Markus Braun-Falco; Silke Hofmann; Leena Bruckner-Tuderman
Encyclopedia of Molecular Mechanisms of Disease ISBN: 9783540671367
Book
Alexander K. C. Leung; Marcus Schmitt; Christie P. Thomas; Cord Sunderkötter; Meinhard Schiller; Thomas Schwarz; Mark Berneburg; Alfried Kohlschütter; Lorenzo Cerroni; Haner Direskeneli; Kenneth Calamia; Gloria L. David; Darryl C. Zeldin; Bärbel Schütte; Lee A. Denson; Andreas Erhardt; Ralf Kubitz; Dieter Häussinger; Wendy M. Sealey; Donald M. Mock; Barry Wolf; Johannes Schumacher; Peter Propping; Dieter Metze; Andrew L. Wong; Markus Hengstschläger; Whitney A. High; Kenneth R. Shroyer; M. Elizabeth McCready; Dennis E. Bulman; Ali R. Afzal; David B. Everman; Claude Stoll; Sukran Darcan; Yu Ru Kou; You Shuei Lin; Yoichi Suzuki; Keiya Tada; Susan Kupka; Wolfgang Dietmaier; Arndt Hartmann; Raoul C. M. Hennekam; John A. Belperio; Michael P. Keane; M. Iain Smith; Robert M. Strieter; Nestor A. Molfino; Francesca Sciandra; Tom Rossenbacker; Silvia G. Priori; Marco Senzolo; Christos Triantos; Dimitrios Samonakis; Evangelos Cholongitas; Andrew K. Burroughs; Marco Mura; Markus Braun-Falco; Silke Hofmann; Leena Bruckner-Tuderman
Encyclopedia of Molecular Mechanisms of Disease ISBN: 9783540671367
Book
Alexander K. C. Leung; Marcus Schmitt; Christie P. Thomas; Cord Sunderkötter; Meinhard Schiller; Thomas Schwarz; Mark Berneburg; Alfried Kohlschütter; Lorenzo Cerroni; Haner Direskeneli; Kenneth Calamia; Gloria L. David; Darryl C. Zeldin; Bärbel Schütte; Lee A. Denson; Andreas Erhardt; Ralf Kubitz; Dieter Häussinger; Wendy M. Sealey; Donald M. Mock; Barry Wolf; Johannes Schumacher; Peter Propping; Dieter Metze; Andrew L. Wong; Markus Hengstschläger; Whitney A. High; Kenneth R. Shroyer; M. Elizabeth McCready; Dennis E. Bulman; Ali R. Afzal; David B. Everman; Claude Stoll; Sukran Darcan; Yu Ru Kou; You Shuei Lin; Yoichi Suzuki; Keiya Tada; Susan Kupka; Wolfgang Dietmaier; Arndt Hartmann; Raoul C. M. Hennekam; John A. Belperio; Michael P. Keane; M. Iain Smith; Robert M. Strieter; Nestor A. Molfino; Francesca Sciandra; Tom Rossenbacker; Silvia G. Priori; Marco Senzolo; Christos Triantos; Dimitrios Samonakis; Evangelos Cholongitas; Andrew K. Burroughs; Marco Mura; Markus Braun-Falco; Silke Hofmann; Leena Bruckner-Tuderman
Encyclopedia of Molecular Mechanisms of Disease ISBN: 9783540671367
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[AR] Raoul C. M. Hennekam
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