학술논문
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'학술논문'
에서 검색결과 1,327건 | 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)
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
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.
Dawood, Y, Buijtendijk, M F J, Bohly, D, Gunst, Q D, Docter, D, Pajkrt, E, Oostra, R-J, Hennekam , R C , van den Hoff, M J B & de Bakker, B S 2023, 'Human embryonic and fetal biobanking : Establishing the Dutch Fetal Biobank and a framework for standardization', Developmental Cell, vol. 58, no. 24, pp. 2826-2835. https://doi.org/10.1016/j.devcel.2023.11.019
Academic Journal
Bakhuizen, Jette J.; Postema, Floor A.M.; van Rijn, Rick R.; van Schuppen, Joost; Duijkers, Floor A.M.; van Noesel, Carel J.M.; Hennekam, Raoul C.; Jongmans, Marjolijn C.J.; Savci-Heijink, C. Dilara; Smetsers, Stephanie E.; Terheggen-Lagro, Suzanne W.J.; Hopman, Saskia M.J.; Oomen, Matthijs W.N.; Merks, Johannes H.M.
Journal of Pediatric Surgery. 59(3):459-463
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
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
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
Postema, Floor A. M.; Hopman, Saskia M. J.; de Borgie, Corianne A. J. M.; Aalfs, Cora M.; Anninga, Jakob K.; Berger, Lieke P. V.; Bleeker, Fonnet E.; Dommering, Charlotte J.; van Eijkelenburg, Natasha K. A.; Hammond, Peter; van den Heuvel-Eibrink, Marry M.; Hol, Janna A.; Kors, Wijnanda A.; Letteboer, Tom G. W.; Loeffen, Jan L. C. M.; Meijer, Lisethe; Olderode-Berends, Maran J. W.; Wagner, Anja; Hennekam, Raoul C.; Merks, Johannes H. M.
Familial cancer. 20(4):263-271
Academic Journal
Alders, Mariëlle; Al-Gazali, Lihadh; Cordeiro, Isabelle; Dallapiccola, Bruno; Garavelli, Livia; Tuysuz, Beyhan; Salehi, Faranak; Haagmans, Martin A.; Mook, Olaf R.; Majoie, Charles B.; Mannens, Marcel M.; Hennekam, Raoul C.
Human Genetics. 133:1161-1167
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
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
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
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
Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu; Di Maria, Emilio; Gjertsen, Bjørn Tore; Tveit, Kåre Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P; Hennekam, Raoul C M; Høvding, Gunnar; Haugen, Olav H; Houge, Gunnar; Rødahl, Eyvind; Bruland, Ove
Hum Mol Genet
Human Molecular Genetics
Human Molecular Genetics
Academic Journal
Melis, Daniela; Carvalho, Daniel; Barbaro-Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renata; Ramsey, Keri; Rossi, Alessandro; Sandoval, Renata Lazari; Stumpel, Constance; Stuurman, Kyra E.; Cordeddu, Viviana; Turnpenny, Peter; Strisciuglio, Pietro; Tartaglia, Marco; Unger, Sheela; Waters, Todd; Turnbull, Clare; Hennekam, Raoul C.
Clinical genetics. 97(6):890-901
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
Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F.; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J.; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C.
Clinical Genetics, 95, 4, pp. 462-478
Academic Journal
Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, Thomas; Mohammed, Shehla; Müller, Christian; Novelli, Antonio; Ortega, Jenny; Sandoval, Adrian; Velasco, Gloria; Yigit, Gökhan; Arboleda, Humberto; Lopez-Otin, Carlos; Wollnik, Bernd; Tartaglia, Marco; Hennekam, Raoul C
Journal of Medical Genetics. 55:837-846
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[검색어] Hennekam, Raoul C.
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