학술논문
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공정이용 지침
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위반 시 제재
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'학술논문'
에서 검색결과 37건 | 목록
1~20
Academic Journal
Harold S. Matthews; Richard L. Palmer; Gareth S. Baynam; Oliver W. Quarrell; Ophir D. Klein; Richard A. Spritz; Raoul C. Hennekam; Susan Walsh; Mark Shriver; Seth M. Weinberg; Benedikt Hallgrimsson; Peter Hammond; Anthony J. Penington; Hilde Peeters; Peter D. Claes
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Academic Journal
Kreepa G. Kooblall; Mark Stevenson; Michelle Stewart; Lachlan Harris; Oressia Zalucki; Hannah Dewhurst; Natalie Butterfield; Houfu Leng; Tertius A. Hough; Da Ma; Bernard Siow; Paul Potter; Roger D. Cox; Stephen D.M. Brown; Nicole Horwood; Benjamin Wright; Helen Lockstone; David Buck; Tonia L. Vincent; Fadil M. Hannan; J.H. Duncan Bassett; Graham R. Williams; Kate E. Lines; Michael Piper; Sara Wells; Lydia Teboul; Raoul C. Hennekam; Rajesh V. Thakker
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
Academic Journal
Piranit Nik Kantaputra; Kanich Tripuwabhrut; Robert P. Anthonappa; Kanoknart Chintakanon; Chumpol Ngamphiw; Ploy Adisornkanj; Nop Porntrakulseree; Bjorn Olsen; Worrachet Intachai; Raoul C. Hennekam; Alexandre R. Vieira; Sissades Tongsima
Diagnostics, Vol 13, Iss 7, p 1214 (2023)
Academic Journal
Erfan Aref-Eshghi; Eric G. Bend; Rebecca L. Hood; Laila C. Schenkel; Deanna Alexis Carere; Rana Chakrabarti; Sandesh C. S. Nagamani; Sau Wai Cheung; Philippe M. Campeau; Chitra Prasad; Victoria Mok Siu; Lauren Brady; Mark A. Tarnopolsky; David J. Callen; A. Micheil Innes; Susan M. White; Wendy S. Meschino; Andrew Y. Shuen; Guillaume Paré; Dennis E. Bulman; Peter J. Ainsworth; Hanxin Lin; David I. Rodenhiser; Raoul C. Hennekam; Kym M. Boycott; Charles E. Schwartz; Bekim Sadikovic
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Academic Journal
Jette J. Bakhuizen; Floor A.M. Postema; Rick R. van Rijn; Joost van Schuppen; Floor A.M. Duijkers; Carel J.M. van Noesel; Raoul C. Hennekam; Marjolijn C.J. Jongmans; C. Dilara Savci-Heijink; Stephanie E. Smetsers; Suzanne W.J. Terheggen-Lagro; Saskia M.J. Hopman; Matthijs W.N. Oomen; Johannes H.M. Merks
Bakhuizen, J J, Postema, F A M, van Rijn, R R, van Schuppen, J, Duijkers, F A M, van Noesel, C J M, Hennekam, R C, Jongmans, M C J, Savci-Heijink, C D, Smetsers, S E, Terheggen-Lagro, S W J, Hopman, S M J, Oomen, M W N & Merks, J H M 2024, 'No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation', Journal of Pediatric Surgery, vol. 59, no. 3, pp. 459-463. https://doi.org/10.1016/j.jpedsurg.2023.10.031
Academic Journal
Floor A. M. Postema; Saskia M. J. Hopman; Corianne A. J. M. de Borgie; Cora M. Aalfs; Jakob K. Anninga; Lieke P. V. Berger; Fonnet E. Bleeker; Charlotte J. Dommering; Natasha K. A. van Eijkelenburg; Peter Hammond; Marry M. van den Heuvel-Eibrink; Janna A. Hol; Wijnanda A. Kors; Tom G. W. Letteboer; Jan L. C. M. Loeffen; Lisethe Meijer; Maran J. W. Olderode-Berends; Anja Wagner; Raoul C. Hennekam; Johannes H. M. Merks
Fam Cancer
Postema, F A M, Hopman, S M J, de Borgie, C A J M, Aalfs, C M, Anninga, J K, Berger, L P V, Bleeker, F E, Dommering, C J, van Eijkelenburg, N K A, Hammond, P, van den Heuvel-Eibrink, M M, Hol, J A, Kors, W A, Letteboer, T G W, Loeffen, J L C M, Meijer, L, Olderode-Berends, M J W, Wagner, A, Hennekam, R C & Merks, J H M 2021, 'Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS) : a prospective, observational, multi-center study', Familial Cancer, vol. 20, no. 4, pp. 263-271. https://doi.org/10.1007/s10689-021-00237-1
Postema, F A M, Hopman, S M J, de Borgie, C A J M, Aalfs, C M, Anninga, J K, Berger, L P V, Bleeker, F E, Dommering, C J, van Eijkelenburg, N K A, Hammond, P, van den Heuvel-Eibrink, M M, Hol, J A, Kors, W A, Letteboer, T G W, Loeffen, J L C M, Meijer, L, Olderode-Berends, M J W, Wagner, A, Hennekam, R C & Merks, J H M 2021, 'Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS) : a prospective, observational, multi-center study', Familial Cancer, vol. 20, no. 4, pp. 263-271. https://doi.org/10.1007/s10689-021-00237-1
Academic Journal
American Journal of Medical Genetics Part A. 185:324-335
Academic Journal
Daniela Melis; Daniel Carvalho; Tina Barbaro‐Dieber; Alberto J. Espay; Michael J. Gambello; Blanca Gener; Erica Gerkes; Marrit M. Hitzert; Hanne B. Hove; Sandra Jansen; Petr E. Jira; Katherine Lachlan; Leonie A. Menke; Vinodh Narayanan; Damara Ortiz; Eline Overwater; Renata Posmyk; Keri Ramsey; Alessandro Rossi; Renata Lazari Sandoval; Constance Stumpel; Kyra E. Stuurman; Viviana Cordeddu; Peter Turnpenny; Pietro Strisciuglio; Marco Tartaglia; Sheela Unger; Todd Waters; Clare Turnbull; Raoul C. Hennekam
Clin Genet
Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, A J, Gambello, M J, Gener, B, Gerkes, E, Hitzert, M M, Hove, H B, Jansen, S, Jira, P E, Lachlan, K, Menke, L A, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, Rossi, A, Sandoval, R L, Stumpel, C, Stuurman, K E, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C & Hennekam, R C 2020, 'Primrose syndrome : Characterization of the phenotype in 42 patients', Clinical Genetics, vol. 97, no. 6, pp. 890-901. https://doi.org/10.1111/cge.13749
Clinical genetics, vol. 97, no. 6, pp. 890-901
Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, A J, Gambello, M J, Gener, B, Gerkes, E, Hitzert, M M, Hove, H B, Jansen, S, Jira, P E, Lachlan, K, Menke, L A, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, Rossi, A, Sandoval, R L, Stumpel, C, Stuurman, K E, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C & Hennekam, R C 2020, 'Primrose syndrome : Characterization of the phenotype in 42 patients', Clinical Genetics, vol. 97, no. 6, pp. 890-901. https://doi.org/10.1111/cge.13749
Clinical genetics, vol. 97, no. 6, pp. 890-901
Academic Journal
Lianne C. Krab; Iñigo Marcos-Alcalde; Melissa Assaf; Meena Balasubramanian; Janne Bayer Andersen; Anne-Marie Bisgaard; David R. Fitzpatrick; Sanna Gudmundsson; Sylvia A. Huisman; Tugba Kalayci; Saskia M. Maas; Francisco Martinez; Shane McKee; Leonie A. Menke; Paul A. Mulder; Oliver D. Murch; Michael Parker; Juan Pie; Feliciano J. Ramos; Claudine Rieubland; Jill A. Rosenfeld Mokry; Emanuela Scarano; Marwan Shinawi; Paulino Gómez-Puertas; Zeynep Tümer; Raoul C. Hennekam
Hum Genet
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Universidad Francisco de Vitoria
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Universidad Francisco de Vitoria
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
Academic Journal
Ariana Kariminejad; Siavash Ghaderi‐Sohi; Elham Keshavarz; Seyed Abolghasem Hashemi; Elham Parsimehr; Emmanuelle Szenker‐Ravi; Muznah Khatoo; Mehrshid Faraji Zonooz; Bruno Reversade; Hossein Najmabadi; Raoul C. Hennekam
Clinical Genetics. 97:915-919
Academic Journal
Martin Zenker; Jens Bunt; Ina Schanze; Denny Schanze; Michael Piper; Manuela Priolo; Erica H. Gerkes; Richard M. Gronostajski; Linda J. Richards; Julie Vogt; Marja W. Wessels; Raoul C. Hennekam
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:611-626
Academic Journal
Suzanna G.M. Frints; Friederike Hennig; Roberto Colombo; Sebastien Jacquemont; Paulien Terhal; Holly H. Zimmerman; David Hunt; Bryce A. Mendelsohn; Ulrike Kordaß; Richard Webster; Margje Sinnema; Omar Abdul‐Rahman; Vanessa Suckow; Alberto Fernández‐Jaén; Kees Roozendaal; Servi J.C. Stevens; Merryn V.E. Macville; Salwan Al‐Nasiry; Koen Gassen; Norbert Utzig; Suzanne M. Koudijs; Lesley McGregor; Saskia M. Maas; Diana Baralle; Abhijit Dixit; Peter Wieacker; Marcus Lee; Arthur S. Lee; Elizabeth C. Engle; Gunnar Houge; Gyri A. Gradek; Andrew G.L. Douglas; Cheryl Longman; Shelagh Joss; Danita Velasco; Raoul C. Hennekam; Hiromi Hirata; Vera M. Kalscheuer
Human Mutation. 40:2270-2285
Academic Journal
Ariana Kariminejad; Hassan Vahidnezhad; Siavash Ghaderi‐Sohi; Ali R. Ghannadan; Leila Youssefian; Elham Parsimehr; Mehrshid Faraji Zonooz; Mohammad H. Kariminejad; Jouni Uitto; Hossein Najmabadi; Raoul C. Hennekam
American Journal of Medical Genetics Part A. 179:1547-1555
Academic Journal
Hugo H. Abarca Barriga; Nathaly Caballero; Milana Trubnykova; María del Carmen Castro‐Mujica; Jorge E. La Serna‐Infantes; Flor Vásquez; Raoul C. Hennekam
American Journal of Medical Genetics Part A. 176:2494-2500
Academic Journal
Manuela Priolo; Denny Schanze; Katrin Tatton-Brown; Paul A. Mulder; Jair Tenorio; Kreepa Kooblall; Inés Hernández Acero; Fowzan S. Alkuraya; Pedro Arias; Laura Bernardini; Emilia K. Bijlsma; Trevor Cole; Christine Coubes; Irene Dapia; Sally Davies; Nataliya Di Donato; Nursel H. Elcioglu; Jill A. Fahrner; Alison Foster; Noelia García González; Ilka Huber; Maria Iascone; Ann-Sophie Kaiser; Arveen Kamath; Jan Liebelt; Sally Ann Lynch; Saskia M. Maas; Corrado Mammì; Inge B. Mathijssen; Shane McKee; Leonie A. Menke; Ghayda M. Mirzaa; Tara Montgomery; Dorothee Neubauer; Thomas E. Neumann; Letizia Pintomalli; Maria Antonietta Pisanti; Astrid S. Plomp; Sue Price; Claire Salter; Fernando Santos-Simarro; Pierre Sarda; Mabel Segovia; Charles Shaw-Smith; Sarah Smithson; Mohnish Suri; Rita Maria Valdez; Arie Van Haeringen; Johanna M. Van Hagen; Marcela Zollino; Pablo Lapunzina; Rajesh V. Thakker; Martin Zenker; Raoul C. Hennekam
Hum Mutat
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Academic Journal
Ivan Ivanovski; Susan Akbaroghli; Marzia Pollazzon; Chiara Gelmini; Stefano Giuseppe Caraffi; Mahboubeh Mansouri; Zahra Chavoshzadeh; Simonetta Rosato; Valeria Polizzi; Giancarlo Gargano; Marielle Alders; Livia Garavelli; Raoul C. Hennekam
American Journal of Medical Genetics Part A. 176:1166-1174
Academic Journal
Franziska Paul; Calista Ng; Shahriar Nafissi; Yalda Nilipoor; Ali Reza Tavasoli; Umar Bin Mohamad Sahari; Carine Bonnard; Pui-Mun Wong; Nasrinsadat Nabavizadeh; Mehrdad A. Estiar; Charles B. Majoie; Hane Lee; Stanley F. Nelson; Ziv Gan-Or; Guy A. Rouleau; Paul P. Van Veldhoven; Rami Massie; Raoul C. Hennekam; Ariana Kariminejad; Bruno Reversade
Academic Journal
Max V. Boot; Martine J. van Belzen; Lucy I. Overbeek; Nathalie Hijmering; Matias Mendeville; Quinten Waisfisz; Pieter Wesseling; Raoul C. Hennekam; Daphne de Jong
Am J Med Genet A
Boot, M V, van Belzen, M J, Overbeek, L I, Hijmering, N, Mendeville, M, Waisfisz, Q, Wesseling, P, Hennekam, R C & de Jong, D 2018, 'Benign and malignant tumors in Rubinstein-Taybi syndrome', American Journal of Medical Genetics Part A, vol. 176, no. 3, pp. 597-608. https://doi.org/10.1002/ajmg.a.38603
Boot, M V, van Belzen, M J, Overbeek, L I, Hijmering, N, Mendeville, M, Waisfisz, Q, Wesseling, P, Hennekam, R C & de Jong, D 2018, 'Benign and malignant tumors in Rubinstein-Taybi syndrome', American Journal of Medical Genetics Part A, vol. 176, no. 3, pp. 597-608. https://doi.org/10.1002/ajmg.a.38603
Academic Journal
Sylvia Huisman; Paul A. Mulder; Egbert Redeker; Ingrid Bader; Anne‐Marie Bisgaard; Alice Brooks; Anna Cereda; Constanza Cinca; Dinah Clark; Valerie Cormier‐Daire; Matthew A. Deardorff; Karin Diderich; Mariet Elting; Anthonie van Essen; David FitzPatrick; Cristina Gervasini; Gabriele Gillessen‐Kaesbach; Katta M. Girisha; Yvonne Hilhorst‐Hofstee; Saskia Hopman; Denise Horn; Mala Isrie; Sandra Jansen; Cathrine Jespersgaard; Frank J. Kaiser; Maninder Kaur; Tjitske Kleefstra; Ian D. Krantz; Phillis Lakeman; Annemiek Landlust; Davor Lessel; Caroline Michot; Jo Moss; Sarah E. Noon; Chris Oliver; Ilaria Parenti; Juan Pie; Feliciano J. Ramos; Claudine Rieubland; Silvia Russo; Angelo Selicorni; Zeynep Tümer; Rieneke Vorstenbosch; Tara L. Wenger; Ingrid van Balkom; Sigrid Piening; Jolanta Wierzba; Raoul C. Hennekam
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
instname
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, 'Phenotypes and genotypes in individuals with SMC1A variants', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125. https://doi.org/10.1002/ajmg.a.38279
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Universidad de Zaragoza
instname
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, 'Phenotypes and genotypes in individuals with SMC1A variants', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125. https://doi.org/10.1002/ajmg.a.38279
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
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[AR] Raoul C. Hennekam
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