학술논문
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'학술논문'
에서 검색결과 288건 | 목록
1~20
Academic Journal
Daphne J. Smits; Christophe Debuy; Alice S. Brooks; Rachel Schot; Federico Ferraro; Dmitrijs Rots; Arjan Bouman; Virginie J. M. Verhoeven; Laura Donker Kaat; Sarina G. Kant; Yolande van Bever; Serwet Demirdas; Shimriet Zeidler; Marieke F. van Dooren; Stephany H. Donze; Lies H. Hoefsloot; Marjon A. van Slegtenhorst; Martina Wilke; Frank Sleutels; Mark Drost; Hennie T. Brüggenwirth; Rick van Minkelen; Anne Goverde; Janna A. Hol; Ingrid M. B. H. van de Laar; Yvette van Ierland; Anneke Kievit; Vyne van der Schoot; Kyra E. Stuurman; Grazia M. S. Mancini; Marja W. Wessels; Tjakko J. van Ham; Tjitske Kleefstra; Tahsin Stefan Barakat
Eur J Hum Genet
Academic Journal
Daniel Greene; Koenraad De Wispelaere; Jon Lees; Marta Codina-Solà; Brynjar O. Jensson; Emma Hales; Andrea Katrinecz; Esther Nieto Molina; Sonia Pascoal; Rolph Pfundt; Rachel Schot; Marta Sevilla Porras; Frank Sleutels; Irene Valenzuela; Robin Wijngaard; Ignacio Arroyo Carrera; Giles Atton; Didac Casas-Alba; Deirdre Donnelly; Anna Duat Rodríguez; Bárbara Fernández Garoz; Nicola Foulds; Deyanira García-Navas Núñez; Elena González Alguacil; Joanna Jarvis; Sarina G. Kant; Irene Madrigal Bajo; Antonio F. Martinez-Monseny; Shane McKee; Nelmar Valentina Ortiz Cabrera; Laia Rodríguez-Revenga Bodi; Andrea Sariego Jamardo; Kari Stefansson; Patrick Sulem; Mohnish Suri; Clara Van Karnebeek; Pradeep Vasudevan; Ana Isabel Vega Pajares; Ángel Carracedo; Marc Engelen; Pablo Lapunzina; Natasha P. Morgan; Beatriz Morte; Patrick Rump; Kathy Stirrups; Eduardo F. Tizzano; Tahsin Stefan Barakat; Michael O’Donoghue; Luis Alberto Pérez-Jurado; Kathleen Freson; Andrew D. Mumford; Ernest Turro
Nat Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373
Academic Journal
Lucia Sentchordi‐Montané; Francisca Díaz‐Gonzalez; Silvia Modamio‐Høybjør; Julián Nevado; Flavia Machado‐Fernandes; Atilano Carcavilla; María Salcedo; Jorge Saraiva; Sarina G Kant; Christian de Bruin; Hermine A. van Duyvenvoorde; Iris González‐Cabaleiro; Lourdes Rey‐Cordo; José Luis Chamorro‐Martín; Vanesa Cancela‐Muñiz; José Juan Alcón‐Sáez; Manuel Parrón‐Pajares; Sergio B. Sousa; Karen E. Heath
Clinical Endocrinology. 103:177-184
Academic Journal
van der Laan, Liselot ; Silva, Ananília ; Kleinendorst, Lotte ; Rooney, Kathleen ; Haghshenas, Sadegheh ; Lauffer, Peter ; Alanay, Yasemin ; Bhai, Pratibha ; Brusco, Alfredo ; de Munnik, Sonja ; de Vries, Bert B.A. ; Vega, Angelica Delgado ; Engelen, Marc ; Herkert, Johanna C. ; Hochstenbach, Ron ; Hopman, Saskia ; Kant, Sarina G. ; Kira, Ryutaro ; Kato, Mitsuhiro ; Keren, Boris ; Kroes, Hester Y. ; Levy, Michael A. ; Lock-Hock, Ngu ; Maas, Saskia M. ; Mancini, Grazia M.S. ; Marcelis, Carlo ; Matsumoto, Naomichi ; Mizuguchi, Takeshi ; Mussa, Alessandro ; Mignot, Cyril ; Närhi, Anu ; Nordgren, Ann ; Pfundt, Rolph ; Polstra, Abeltje M. ; Trajkova, Slavica ; van Bever, Yolande ; José van den Boogaard, Marie ; van der Smagt, Jasper J. ; Barakat, Tahsin Stefan ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Human Genetics and Genomics Advances 9 January 2025 6(1)
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
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
Koza, Sylvia A. ; Tabet, Anne C. ; Bonaglia, Maria C. ; Andres, Stephanie ; Anderlid, Britt-Marie. ; Aten, Emmelien ; Stiefsohn, Dominique ; Evans, D. Gareth ; van Ravenswaaij-Arts, Conny M.A. ; Kant, Sarina G.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Pagliara, Daria ; Ciolfi, Andrea ; Pedace, Lucia ; Haghshenas, Sadegheh ; Ferilli, Marco ; Levy, Michael A. ; Miele, Evelina ; Nardini, Claudia ; Cappelletti, Camilla ; Relator, Raissa ; Pitisci, Angela ; De Vito, Rita ; Pizzi, Simone ; Kerkhof, Jennifer ; McConkey, Haley ; Nazio, Francesca ; Kant, Sarina G. ; Di Donato, Maddalena ; Agolini, Emanuele ; Matraxia, Marta ; Pasini, Barbara ; Pelle, Alessandra ; Galluccio, Tiziana ; Novelli, Antonio ; Barakat, Tahsin Stefan ; Andreani, Marco ; Rossi, Francesca ; Mecucci, Cristina ; Savoia, Anna ; Sadikovic, Bekim ; Locatelli, Franco ; Tartaglia, Marco
In The American Journal of Human Genetics 2 November 2023 110(11):1938-1949
Academic Journal
Avinaash V. Maharaj; Emily Cottrell; Thatchawan Thanasupawat; Sjoerd D. Joustra; Barbara Triggs-Raine; Masanobu Fujimoto; Sarina G. Kant; Danielle van der Kaay; Agnes Clement-de Boers; Alice S. Brooks; Gabriel Amador Aguirre; Irene Martín del Estal; María Inmaculada Castilla de Cortázar Larrea; Ahmed Massoud; Hermine A. van Duyvenvoorde; Christiaan De Bruin; Vivian Hwa; Thomas Klonisch; Sabine Hombach-Klonisch; Helen L. Storr
JCI Insight
Academic Journal
Ryan J. Billar; Wiem Manoubi; Sarina G. Kant; René M.H. Wijnen; Serwet Demirdas; Johannes M. Schnater
Journal of Pediatric Surgery. 56:2239-2252
Academic Journal
Margot A. Cousin; Emma L. Veale; Nikita R. Dsouza; Swarnendu Tripathi; Robyn G. Holden; Maria Arelin; Geoffrey Beek; Mir Reza Bekheirnia; Jasmin Beygo; Vikas Bhambhani; Martin Bialer; Stefania Bigoni; Cyrus Boelman; Jenny Carmichael; Thomas Courtin; Benjamin Cogne; Ivana Dabaj; Diane Doummar; Laura Fazilleau; Alessandra Ferlini; Ralitza H. Gavrilova; John M. Graham; Tobias B. Haack; Jane Juusola; Sarina G. Kant; Saima Kayani; Boris Keren; Petra Ketteler; Chiara Klöckner; Tamara T. Koopmann; Teresa M. Kruisselbrink; Alma Kuechler; Laëtitia Lambert; Xénia Latypova; Robert Roger Lebel; Magalie S. Leduc; Emanuela Leonardi; Andrea M. Lewis; Wendy Liew; Keren Machol; Samir Mardini; Kirsty McWalter; Cyril Mignot; Julie McLaughlin; Alessandra Murgia; Vinodh Narayanan; Caroline Nava; Sonja Neuser; Mathilde Nizon; Davide Ognibene; Joohyun Park; Konrad Platzer; Céline Poirsier; Maximilian Radtke; Keri Ramsey; Cassandra K. Runke; Maria J. Guillen Sacoto; Fernando Scaglia; Marwan Shinawi; Stephanie Spranger; Ee Shien Tan; John Taylor; Anne-Sophie Trentesaux; Filippo Vairo; Rebecca Willaert; Neda Zadeh; Raul Urrutia; Dusica Babovic-Vuksanovic; Michael T. Zimmermann; Alistair Mathie; Eric W. Klee
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Academic Journal
van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A. ; Adachi-Fukuda, Miho ; Alanay, Yasemin ; AlKindy, Adila ; Baban, Anwar ; Bayat, Allan ; Beck-Wödl, Stefanie ; Berry, Katherine ; Bijlsma, Emilia K. ; Bok, Levinus A. ; Brouwer, Alwin F.J. ; van der Burgt, Ineke ; Campeau, Philippe M. ; Canham, Natalie ; Chrzanowska, Krystyna ; Chu, Yoyo W.Y. ; Chung, Brain H.Y. ; Dahan, Karin ; De Rademaeker, Marjan ; Destree, Anne ; Dudding-Byth, Tracy ; Earl, Rachel ; Elcioglu, Nursel ; Elias, Ellen R. ; Fagerberg, Christina ; Gardham, Alice ; Gener, Blanca ; Gerkes, Erica H. ; Grasshoff, Ute ; van Haeringen, Arie ; Heitink, Karin R. ; Herkert, Johanna C. ; den Hollander, Nicolette S. ; Horn, Denise ; Hunt, David ; Kant, Sarina G. ; Kato, Mitsuhiro ; Kayserili, Hülya ; Kersseboom, Rogier ; Kilic, Esra ; Krajewska-Walasek, Malgorzata ; Lammers, Kylin ; Laulund, Lone W. ; Lederer, Damien ; Lees, Melissa ; López-González, Vanesa ; Maas, Saskia ; Mancini, Grazia M.S. ; Marcelis, Carlo ; Martinez, Francisco ; Maystadt, Isabelle ; McGuire, Marianne ; McKee, Shane ; Mehta, Sarju ; Metcalfe, Kay ; Milunsky, Jeff ; Mizuno, Seiji ; Moeschler, John B. ; Netzer, Christian ; Ockeloen, Charlotte W. ; Oehl-Jaschkowitz, Barbara ; Okamoto, Nobuhiko ; Olminkhof, Sharon N.M. ; Orellana, Carmen ; Pasquier, Laurent ; Pottinger, Caroline ; Riehmer, Vera ; Robertson, Stephen P. ; Roifman, Maian ; Rooryck, Caroline ; Ropers, Fabienne G. ; Rosello, Monica ; Ruivenkamp, Claudia A.L. ; Sagiroglu, Mahmut S. ; Sallevelt, Suzanne C.E.H. ; Sanchis Calvo, Amparo ; Simsek-Kiper, Pelin O. ; Soares, Gabriela ; Solaeche, Lucia ; Sonmez, Fatma Mujgan ; Splitt, Miranda ; Steenbeek, Duco ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tanabe, Saori ; Uctepe, Eyyup ; Utine, G. Eda ; Veenstra-Knol, Hermine E. ; Venkateswaran, Sunita ; Vilain, Catheline ; Vincent-Delorme, Catherine ; Vulto-van Silfhout, Anneke T. ; Wheeler, Patricia ; Wilson, Golder N. ; Wilson, Louise C. ; Wollnik, Bernd ; Kosho, Tomoki ; Wieczorek, Dagmar ; Eichler, Evan ; Pfundt, Rolph ; de Vries, Bert B.A. ; Clayton-Smith, Jill ; Santen, Gijs W.E.
In Genetics in Medicine June 2019 21(6):1295-1307
Academic Journal
Christopher C Y Mak; Dan Doherty; Angela E Lin; Nancy Vegas; Megan T Cho; Géraldine Viot; Clémantine Dimartino; James D Weisfeld-Adams; Davor Lessel; Shelagh Joss; Chumei Li; Claudia Gonzaga-Jauregui; Yuri A Zarate; Nadja Ehmke; Denise Horn; Caitlin Troyer; Sarina G Kant; Youngha Lee; Gisele E Ishak; Gordon Leung; Amanda Barone Pritchard; Sandra Yang; Eric G Bend; Francesca Filippini; Chelsea Roadhouse; Nicolas Lebrun; Michele G Mehaffey; Pierre-Marie Martin; Benjamin Apple; Francisca Millan; Oliver Puk; Mariette J V Hoffer; Lindsay B Henderson; Ruth McGowan; Ingrid M Wentzensen; Steven Pei; Farah R Zahir; Mullin Yu; William T Gibson; Ann Seman; Marcie Steeves; Jill R Murrell; Sabine Luettgen; Elizabeth Francisco; Tim M Strom; Louise Amlie-Wolf; Angela M Kaindl; William G Wilson; Sara Halbach; Lina Basel-Salmon; Noa Lev-El; Jonas Denecke; Lisenka E L M Vissers; Kelly Radtke; Jamel Chelly; Elaine Zackai; Jan M Friedman; Michael J Bamshad; Deborah A Nickerson; Russell R Reid; Koenraad Devriendt; Jong-Hee Chae; Elliot Stolerman; Carey McDougall; Zöe Powis; Thierry Bienvenu; Tiong Y Tan; Naama Orenstein; William B Dobyns; Joseph T Shieh; Murim Choi; Darrel Waggoner; Karen W Gripp; Michael J Parker; Joan Stoler; Stanislas Lyonnet; Valérie Cormier-Daire; David Viskochil; Trevor L Hoffman; Jeanne Amiel; Brian H Y Chung; Christopher T Gordon
Brain, 143, 1, pp. 55-68
Brain 143, 55-68 (2020)
Brain 143, 55-68 (2020)
Academic Journal
Philip J. Ostrowski; Anna Zachariou; Chey Loveday; Ana Beleza‐Meireles; Marta Bertoli; John Dean; Andrew G. L. Douglas; Ian Ellis; Alison Foster; John M. Graham; Jennifer Hague; Yvonne Hilhorst‐Hofstee; Mariette Hoffer; Diana Johnson; Dragana Josifova; Sarina G. Kant; Usha Kini; Katherine Lachlan; Wayne Lam; Melissa Lees; Sally Lynch; Silvia Maitz; Shane McKee; Kay Metcalfe; Katherine Nathanson; Charlotte W. Ockeloen; Michael J. Parker; Tyler M. Pierson; Elisa Rahikkala; Pedro A. Sanchez‐Lara; Alice Spano; Lionel Van Maldergem; Trevor Cole; Sofia Douzgou; Katrina Tatton‐Brown
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 4, pp. 557-564
Academic Journal
Lucy Bownass; Stephen Abbs; Ruth Armstrong; Genevieve Baujat; Gry Behzadi; Ragnhild Drage Berentsen; Christine Burren; Alistair Calder; Valérie Cormier‐Daire; Ruth Newbury‐Ecob; Nicola Foulds; Petur B. Juliusson; Sarina G. Kant; Henrietta Lefroy; Sarju G. Mehta; Else Merckoll; Caroline Michot; Fergal Monsell; Amaka C. Offiah; Allan Richards; Karen Rosendahl; Cecilie F. Rustad; Deborah Shears; Kristian Tveten; Diana Wellesley; Paul Wordsworth; Sarah Smithson
American Journal of Medical Genetics Part A. 179:1884-1894
Academic Journal
Felix Boschann; Kyra E. Stuurman; Christiaan de Bruin; Marjon van Slegtenhorst; Hermine A. van Duyvenvoorde; Sarina G. Kant; Nadja Ehmke
American Journal of Medical Genetics Part A. 182:431-436
Academic Journal
Joustra, Sjoerd D.; Isik, Emregul; Wit, Jan M.; Catli, Gonul; Anik, Ahmet; Haliloglu, Belma; Kandemir, Nurgun; Ozsu, Elif; Hendriks, Yvonne M.C.; de Bruin, Christiaan; Kant, Sarina G.; Campos-Barros, Angel; Challis, Rachel C.; Parry, David; Harley, Margaret E.; Jackson, Andrew; Losekoot, Monique; van Duyvenvoorde, Hermine A.
Hormone Research in Paediatrics; 2025, Vol. 98 Issue 5, p532-542, 11p
Academic Journal
Maria O. Levitin; Lettie E Rawlins; Gabriela Sanchez-Andrade; Osama A. Arshad; Stephan C. Collins; Stephen J. Sawiak; Phillip H. Iffland; Malin H.L. Andersson; Caleb Bupp; Emma L. Cambridge; Eve L. Coomber; Ian Ellis; Johanna C. Herkert; Holly Ironfield; Logan Jory; Perrine F. Kretz; Sarina G. Kant; Alexandra Neaverson; Esther Nibbeling; Christine Rowley; Emily Relton; Mark Sanderson; Ethan M. Scott; Helen Stewart; Andrew Y. Shuen; John Schreiber; Liz Tuck; James Tonks; Thorkild Terkelsen; Conny van Ravenswaaij-Arts; Pradeep Vasudevan; Olivia Wenger; Michael Wright; Andrew Day; Adam Hunter; Minal Patel; Christopher J. Lelliott; Peter B. Crino; Binnaz Yalcin; Andrew Crosby; Emma L. Baple; Darren W. Logan; Matthew E. Hurles; Sebastian S. Gerety
Academic Journal
Jeroen J. Smits; Jaap Oostrik; Andy J. Beynon; Sarina G. Kant; Pia A. M. de Koning Gans; Liselotte J. C. Rotteveel; Jolien S. Klein Wassink-Ruiter; Rolien H. Free; Saskia M. Maas; Jiddeke van de Kamp; Paul Merkus; Wouter Koole; Ilse Feenstra; Ronald J. C. Admiraal; Cornelis P. Lanting; Margit Schraders; Helger G. Yntema; Ronald J. E. Pennings; Hannie Kremer
Hum Genet
Smits, J J, Oostrik, J, Beynon, A J,Kant , S G , de Koning Gans, P A M, Rotteveel, L J C, Klein Wassink-Ruiter, J S, Free, R H, Maas, S M, van de Kamp, J, Merkus, P, Koole, W, Feenstra, I, Admiraal, R J C, Lanting, C P, Schraders, M, Yntema, H G , Pennings, R J E, Kremer, H & DOOFNL Consortium 2019, 'De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment', Human Genetics, vol. 138, no. 1, pp. 61-72. https://doi.org/10.1007/s00439-018-1965-1
Human Genetics, 138, 1, pp. 61-72
Smits, J J, Oostrik, J, Beynon, A J,
Human Genetics, 138, 1, pp. 61-72
Academic Journal
Maartje C. van Rij; Iris H. I. M. Hollink; Paulien Anna Terhal; Sarina G. Kant; Claudia Ruivenkamp; Arie van Haeringen; J. Anneke Kievit; Martine J. van Belzen
American Journal of Medical Genetics Part A. 176:1212-1215
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