학술논문
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'학술논문'
에서 검색결과 1,329건 | 목록
1~20
Academic Journal
Krab, Lianne C.; Marcos-Alcalde, Iñigo; Assaf, Melissa; Balasubramanian, Meena; Bayer Andersen, Janne; Bisgaard, Anne-Marie; Fitzpatrick, David R.; Gudmundsson, Sanna, 1989; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martinez, Francisco; McKee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Mokry, Jill A. Rosenfeld; Scarano, Emanuela; Shinawi, Marwan; Gomez-Puertas, Paulino; Tümer, Zeynep; Hennekam, Raoul C.
Human Genetics. 139(5):575-592
Academic Journal
Schoen, Michael; Lapunzina, Pablo; Mattina, Teresa; Gunnarsson, Cecilia, 1970; Hadzsiev, Kinga; Verpelli, Chiara; Bourgeron, Thomas; Jesse, Sarah; Van Ravenswaaij-Arts, Conny M. A.; the European Phelan-McDermid syndrome consortium; Hennekam, Raoul C.
European Journal of Medical Genetics. 66(7)
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
Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant
Academic Journal
Hu, Yalan ; Lauffer, Peter ; Jongejan, Aldo ; Falize, Kim ; Bruinstroop, Eveline ; van Trotsenburg, Paul ; Fliers, Eric ; Hennekam, Raoul C. ; Boelen, Anita
In Gene 15 November 2024 927
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; Umar Bin Mohamad Sahari; Shahriar Nafissi; Yalda Nilipoor; Ali Reza Tavasoli; Carine Bonnard; Pui-Mun Wong; Nasrinsadat Nabavizadeh; Umut Altunoğlu; 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
Paul, F, Ng, C , Mohamad Sahari, U B, Nafissi, S, Nilipoor, Y, Tavasoli, A R, Bonnard, C , Wong, P-M, Nabavizadeh, N, Altunoğlu, U, Estiar, M A, Majoie, C B, Lee, H, Nelson, S F, Gan-Or, Z, Rouleau, G A, van Veldhoven, P P, Massie, R, Hennekam , R C , Kariminejad, A & Reversade, B 2022, 'RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder', Human Molecular Genetics, vol. 31, no. 21, pp. 3729-3740. https://doi.org/10.1093/hmg/ddac120
Human molecular genetics
Human molecular genetics
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,
Clinical genetics, vol. 97, no. 6, pp. 890-901
Academic Journal
Gaasterland, C.M.W. ; Klein Haneveld, M.J. ; Vyshka, Klea; Hugon, A.; van Eeghen, A.M. ; Alhambra, Norma ; Anderlid, Britt-Marie ; Andres, Stephanie ; Aten, Emmelien ; Guedes, Rui Barbosa ; Bonaglia, Maria C. ; Bourgeron, Thomas ; Burdeus-Olavarrieta, Monica ; Carbin, Maya J. ; Cooke, Jennifer ; Damstra, Robert J. ; de Coo, Irenaeus F.M. ; Di Domenico, Stella ; Evans, D. Gareth ; Fernández-Fructuoso, José Ramón ; Grabrucker, Andreas M. ; Gunnarson, Cecilia ; Hadzsiev, Kinga ; Hennekam, Raoul C. ; Jesse, Sarah ; Kant, Sarina G. ; Koza, Sylvia A. ; Kuiper, Els ; Landlust, Annemiek M. ; Lapunzina, Pablo ; Loth, Eva ; Mansour, Sahar ; Maruani, Anna ; Mattina, Teresa ; Matulevičienė, Aušra ; Nevado, Julián ; Parker, Susanne ; Robert, Sandra ; Sala, Carlo ; San José Cáceres, Antonia ; Schön, Michael ; Šiaurytė, Kamilė ; Stemkens, Daphne ; Stiefsohn, Dominique ; Swillen, Ann ; Tabet, Anne C. ; Toro, Roberto ; Turner, Alison ; van Balkom, Ingrid D.C. ; van Buggenhout, Griet ; van Eeghen, Agnies M. ; van Ravenswaaij-Arts, Conny M.A. ; van Weering, Sabrina ; Verpelli, Chiara ; Vignes, Stephane ; Vogels, Annick ; Walinga, Margreet ; Stemkens, D. ; Maruani, A. ; Hadzsiev, K. ; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Dawood, Yousif ; Buijtendijk, Marieke F.J. ; Bohly, Doriane ; Gunst, Quinn D. ; Docter, Daniel ; Pajkrt, Eva ; Oostra, Roelof-Jan ; Hennekam, Raoul C. ; van den Hoff, Maurice J.B. ; de Bakker, Bernadette S.
In Developmental Cell 18 December 2023 58(24):2826-2835
Academic Journal
van Kuilenburg, André B P; Dobritzsch, Doreen, 1972; Meijer, Judith; Krumpel, Michael; Selim, Laila A; Rashed, Mohamed S; Assmann, Birgit; Meinsma, Rutger; Lohkamp, Bernhard; Ito, Tetsuya; Abeling, Nico G G M; Saito, Kayoko; Eto, Kaoru; Smitka, Martin; Engvall, Martin; Zhang, Chunhua; Xu, Wang; Zoetekouw, Lida; Hennekam, Raoul C M
Biochimica et Biophysica Acta. 1822(7):1096-108
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,
Academic Journal
Yalan Hu; Gemma F Codner; Michelle Stewart; Susanne E La Fleur; Paul A S van Trotsenburg; Eric Fliers; Raoul C Hennekam; Anita Boelen
Journal of Molecular Endocrinology. 73
Academic Journal
Postema, Floor A.M. ; Matthews, Harold ; Hopman, Saskia M.J. ; Merks, Johannes H.M. ; Suttie, Michael ; Hoskens, Hanne ; Peeters, Hilde ; Hennekam, Raoul C. ; Claes, Peter ; Hammond, Peter
In Computer Methods and Programs in Biomedicine June 2021 205
Academic Journal
Kariminejad, Ariana ; Shakiba, Marjan ; Shams, Mehrvash ; Namiranian, Parva ; Eghbali, Maryam ; Talebi, Said ; Makvand, Mina ; Jaeken, Jaak ; Najmabadi, Hossein ; Hennekam, Raoul C.
In European Journal of Medical Genetics March 2021 64(3)
Academic Journal
Hieltjes, Iméze Jorieke; Gaasterland, Charlotte M. W.; Bakx, Roel; van Breukelen, Silvia C. W.; Ensink, Robbert J. H.; van Esch, Charlotte; Hennekam, Raoul C. M.; van Herk, Ilse; Hermsen, Marieke; Horemans, Anja M. C.; Rippen, Hester; van de Warrenburg, Bart P. C.; van Wermeskerken, Anne‐Marie; van der Lee, Johanna H.
Clinical & Public Health Guidelines; Oct2025, Vol. 2 Issue 4, p1-6, 6p
Academic Journal
American Journal of Medical Genetics Part A. 185:324-335
Academic Journal
Douzgou, Sofia; Dell’Oro, Janet; Fonseca, Cristina Rodriguez; Rei, Alessandra; Mullins, Jo; Jusiewicz, Isabelle; Huisman, Sylvia; Simpson, Brittany N.; Vyshka, Klea; Milani, Donatella; Bartsch, Oliver; Lacombe, Didier; García-Miñaúr, Sixto; Hennekam, Raoul C. M.
European Journal of Human Genetics. 30(7):841-847
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
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
JBMR Plus, vol 7, iss 6
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
JBMR Plus, vol 7, iss 6
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
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)
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