학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Sam van de Ven; Raphael Bernier; Ernie M. H. F. Bongers; Arjan Bouman; Laura de Graaff – Herder; Evan E. Eichler; Erica H. Gerkes; Christa M. De Geus; Johanna M. van Hagen; Philip R. Jansen; Jennifer Kerkhof; Anneke J. A. Kievit; Tjitske Kleefstra; Saskia M. Maas; Stella A. de Man; Haley McConkey; Wesley G. Patterson; Amy T. Dobson; Eloise J. Prijoles; Bekim Sadikovic; Raissa Relator; Roger E. Stevenson; Connie T. R. M. Stumpel; Malou Heijligers; Kyra E. Stuurman; Katharina Löhner; Shimriet Zeidler; Jennifer A. Lee; Amanda Lindy; Fanggeng Zou; Matthew L. Tedder; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Academic Journal
Charlotte Gehin; Museer A. Lone; Winston Lee; Laura Capolupo; Sylvia Ho; Adekemi M. Adeyemi; Erica H. Gerkes; Alexander P.A. Stegmann; Estrella López-Martín; Eva Bermejo-Sánchez; Beatriz Martínez-Delgado; Christiane Zweier; Cornelia Kraus; Bernt Popp; Vincent Strehlow; Daniel Gräfe; Ina Knerr; Eppie R. Jones; Stefano Zamuner; Luciano A. Abriata; Vidya Kunnathully; Brandon E. Moeller; Anthony Vocat; Samuel Rommelaere; Jean-Philippe Bocquete; Evelyne Ruchti; Greta Limoni; Marine Van Campenhoudt; Samuel Bourgeat; Petra Henklein; Christian Gilissen; Bregje W. van Bon; Rolph Pfundt; Marjolein H. Willemsen; Jolanda H. Schieving; Emanuela Leonardi; Fiorenza Soli; Alessandra Murgia; Hui Guo; Qiumeng Zhang; Kun Xia; Christina R. Fagerberg; Christoph P. Beier; Martin J. Larsen; Irene Valenzuela; Paula Fernández-Álvarez; Shiyi Xiong; Robert Śmigiel; Vanesa López-González; Lluís Armengol; Manuela Morleo; Angelo Selicorni; Annalaura Torella; Moira Blyth; Nicola S. Cooper; Valerie Wilson; Renske Oegema; Yvan Herenger; Aurore Garde; Ange-Line Bruel; Frederic Tran Mau-Them; Alexis B.R. Maddocks; Jennifer M. Bain; Musadiq A. Bhat; Gregory Costain; Peter Kannu; Ashish Marwaha; Neena L. Champaigne; Michael J. Friez; Ellen B. Richardson; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Yask Gupta; Tze Y. Lim; Simone Sanna-Cherchi; Bruno Lemaitre; Toshiyuki Yamaji; Kentaro Hanada; John E. Burke; Ana Marjia Jakšić; Brian D. McCabe; Paolo De Los Rios; Thorsten Hornemann; Giovanni D’Angelo; Vincenzo A. Gennarino
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Academic Journal
Patrick Deelen; Sipko van Dam; Johanna C. Herkert; Juha M. Karjalainen; Harm Brugge; Kristin M. Abbott; Cleo C. van Diemen; Paul A. van der Zwaag; Erica H. Gerkes; Evelien Zonneveld-Huijssoon; Jelkje J. Boer-Bergsma; Pytrik Folkertsma; Tessa Gillett; K. Joeri van der Velde; Roan Kanninga; Peter C. van den Akker; Sabrina Z. Jan; Edgar T. Hoorntje; Wouter P. te Rijdt; Yvonne J. Vos; Jan D. H. Jongbloed; Conny M. A. van Ravenswaaij-Arts; Richard Sinke; Birgit Sikkema-Raddatz; Wilhelmina S. Kerstjens-Frederikse; Morris A. Swertz; Lude Franke
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Academic Journal
Peer Arts; Annet Simons; Mofareh S. AlZahrani; Elanur Yilmaz; Eman AlIdrissi; Koen J. van Aerde; Njood Alenezi; Hamza A. AlGhamdi; Hadeel A. AlJubab; Abdulrahman A. Al-Hussaini; Fahad AlManjomi; Alaa B. Alsaad; Badr Alsaleem; Abdulrahman A. Andijani; Ali Asery; Walid Ballourah; Chantal P. Bleeker-Rovers; Marcel van Deuren; Michiel van der Flier; Erica H. Gerkes; Christian Gilissen; Murad K. Habazi; Jayne Y. Hehir-Kwa; Stefanie S. Henriet; Esther P. Hoppenreijs; Sarah Hortillosa; Chantal H. Kerkhofs; Riikka Keski-Filppula; Stefan H. Lelieveld; Khurram Lone; Marius A. MacKenzie; Arjen R. Mensenkamp; Jukka Moilanen; Marcel Nelen; Jaap ten Oever; Judith Potjewijd; Pieter van Paassen; Janneke H. M. Schuurs-Hoeijmakers; Anna Simon; Tomasz Stokowy; Maartje van de Vorst; Maaike Vreeburg; Anja Wagner; Gijs T. J. van Well; Dimitra Zafeiropoulou; Evelien Zonneveld-Huijssoon; Joris A. Veltman; Wendy A. G. van Zelst-Stams; Eissa A. Faqeih; Frank L. van de Veerdonk; Mihai G. Netea; Alexander Hoischen
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Academic Journal
Silvestre Cuinat; Mathilde Nizon; Bertrand Isidor; Alexander Stegmann; Richard H. van Jaarsveld; Koen L. van Gassen; Jasper J. van der Smagt; Catharina M.L. Volker-Touw; Sjoerd J.B. Holwerda; Paulien A. Terhal; Sarah Schuhmann; Georgia Vasileiou; Mohamed Khalifa; Alaa A. Nugud; Hemad Yasaei; Lilian Bomme Ousager; Charlotte Brasch-Andersen; Wallid Deb; Thomas Besnard; Marleen E.H. Simon; Karin Huijsdens-van Amsterdam; Nienke E. Verbeek; Dena Matalon; Natalie Dykzeul; Shana White; Elizabeth Spiteri; Koen Devriendt; Anneleen Boogaerts; Marjolein Willemsen; Han G. Brunner; Margje Sinnema; Bert B.A. De Vries; Erica H. Gerkes; Rolph Pfundt; Kosuke Izumi; Ian D. Krantz; Zhou L. Xu; Jill R. Murrell; Irene Valenzuela; Ivon Cusco; Eulàlia Rovira-Moreno; Yaping Yang; Varoona Bizaoui; Olivier Patat; Laurence Faivre; Frederic Tran-Mau-Them; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Christophe Philippe; Stéphane Bezieau; Benjamin Cogné
Genetics in Medicine, 24, 8, pp. 1774-1780
Academic Journal
Mariagrazia Talarico; Julitta de Bellescize; Matthias De Wachter; Xavier Le Guillou; Guylène Le Meur; Matthieu Egloff; Bertrand Isidor; Benjamin Cogné; Diane Beysen; Paul Rollier; Melanie Fradin; Laurent Pasquier; Ilaria Guella; Scott E. Hickey; Paul J. Benke; Amelle Shillington; Candy Kumps; Olivier Vanakker; Erica H. Gerkes; Shenela Lakhani; Irina Romanova; Ilya Kanivets; Melanie Brugger; Katharina Vill; Raymond C. Caylor; Cindy Skinner; Rory J. Tinker; Tommy Stödberg; Astrid Nümann; Tobias B. Haack; Natalie Deininger; Holger Hengel; Jeanne Jury; Solène Conrad; Sandra Mercier; Grace Yoon; Melissa Tsuboyama; Giulia Barcia; Cyril Gitiaux; Marlène Rio; Andrea Bevot; Sylvia Redon; Kevin Uguen; Antje Wonneberger; Alexander Schulz; Dagmar Timmann; Danielle Hays Karlowicz; Nicolas Chatron; Amanda Carnevale; Sonal Mahida; Katrin Õunap; Sébastien Kury; Sara Cabet; Gaetan Lesca
Genetics in medicine
GENETICS IN MEDICINE
GENETICS IN MEDICINE
Academic Journal
Nancy Vegas; Zeynep Demir; Christopher T. Gordon; Sylvain Breton; Vanessa L. Romanelli Tavares; Hugo Moisset; Roseli Zechi‐Ceide; Nancy M. Kokitsu‐Nakata; Yasuhiro Kido; Sandrine Marlin; Souad Gherbi Halem; Ilse Meerschaut; Bert Callewaert; Brian Chung; Nicole Revencu; Daphné Lehalle; Florence Petit; Evan J. Propst; Blake C. Papsin; John H. Phillips; Linda Jakobsen; Pauline Le Tanno; Julien Thévenon; Julie McGaughran; Erica H. Gerkes; Chiara Leoni; Peter Kroisel; Tiong Y. Tan; Alex Henderson; Paulien Terhal; Lina Basel‐Salmon; Adila Alkindy; Susan M. White; Maria R. Passos‐Bueno; Véronique Pingault; Loïc De Pontual; Jeanne Amiel
Human mutation, Vol. 43, no. 5, p. 582-594 (2022)
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes, E H, Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349
HUMAN MUTATION
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes, E H, Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349
HUMAN MUTATION
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Jung-Hyun Kim; Zahide Alaçam; Laurence Faivre; Kathleen M. Collins; Erica H. Gerkes; Mieke van Haelst; Ingrid M. B. H. van de Laar; Kristin Lindstrom; Mathilde Nizon; James Pauling; Edyta Heropolitańska-Pliszka; Astrid S. Plomp; Caroline Racine; Rani Sachdev; Margje Sinnema; Jon Skranes; Hermine E. Veenstra-Knol; Eline A. Verberne; Anneke T. Vulto-van Silfhout; Marlon E. F. Wilsterman; Eun-Young Erin Ahn; Bert B. A. de Vries; Lisenka E. L. M. Vissers
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, 'Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics. https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics
Academic Journal
Marjolijn C. Jongmans; Nicoline Hoogerbrugge; Roland P. Kuiper; Arjen R. Mensenkamp; Anja Wagner; Jan Loeffen; Eveline S. de Bont; Thatjana Gardeitchik; Anneke Vulto- van Silfhout; Denisa Ilencikova; Wojciech Mlynarski; Agata Pastorczak; Antonis Kattamis; Elizabeth Thompson; Lesley McGregor; Dylan Mordaunt; Martine J. van Belzen; Gijs W. Santen; Carlo Marcelis; David A. Koolen; Erica H. Gerkes; Maran J. Olderode-Berends; Saskia Hopman; Peter M. Hoogerbrugge; Eveline J. Kamping; Diede A.G. van Bladel; Marjolijn J. Ligtenberg; Esmé Waanders; Illja J. Diets
Academic Journal
Marjolijn C. Jongmans; Nicoline Hoogerbrugge; Roland P. Kuiper; Arjen R. Mensenkamp; Anja Wagner; Jan Loeffen; Eveline S. de Bont; Thatjana Gardeitchik; Anneke Vulto- van Silfhout; Denisa Ilencikova; Wojciech Mlynarski; Agata Pastorczak; Antonis Kattamis; Elizabeth Thompson; Lesley McGregor; Dylan Mordaunt; Martine J. van Belzen; Gijs W. Santen; Carlo Marcelis; David A. Koolen; Erica H. Gerkes; Maran J. Olderode-Berends; Saskia Hopman; Peter M. Hoogerbrugge; Eveline J. Kamping; Diede A.G. van Bladel; Marjolijn J. Ligtenberg; Esmé Waanders; Illja J. Diets
Academic Journal
Marjolijn C. Jongmans; Nicoline Hoogerbrugge; Roland P. Kuiper; Arjen R. Mensenkamp; Anja Wagner; Jan Loeffen; Eveline S. de Bont; Thatjana Gardeitchik; Anneke Vulto- van Silfhout; Denisa Ilencikova; Wojciech Mlynarski; Agata Pastorczak; Antonis Kattamis; Elizabeth Thompson; Lesley McGregor; Dylan Mordaunt; Martine J. van Belzen; Gijs W. Santen; Carlo Marcelis; David A. Koolen; Erica H. Gerkes; Maran J. Olderode-Berends; Saskia Hopman; Peter M. Hoogerbrugge; Eveline J. Kamping; Diede A.G. van Bladel; Marjolijn J. Ligtenberg; Esmé Waanders; Illja J. Diets
Academic Journal
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; Galazzi, Elena; van Gils, Julien; Hurst, Anna C E; Kaiser, Frank J; Lacombe, Didier; Martinez-Monseny, Antonio F; Fergelot, Patricia; Monteiro, Fabíola P; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N; Alders, Mariëlle; Robertson, Stephen P; Sadikovic, Bekim; Menke; Leonie A The members of the MKHK Research Consortium are An- drea Angius; Janice A. Baker; Emma Bedoukian; Vikas Bhambhani; Olaf Bodamer; Alan O’Brien; Jill Clayton- Smith; Laura Crisponi; Anna Mar ́ıa Cueto Gonza ́lez; the DDD study; Koenraad Devriendt; Elena Dominguez Gar- rido; Nadja Ehmke; Albertien van Eerde; Annette P. M. van den Elzen; Laurence Faivre; Laura Fisher; Josue A. Flores- Daboub; Alison Foster; Jennifer Friedman; Elisabeth Gabau; Elena Galazzi; Sixto Garc ́ıa-Min ̃au ́r; Livia Garavelli; That- jana Gardeitchik; Erica H. Gerkes; Julien van Gils; Jacques C. Giltay; Aixa Gonzalez Garcia; Ketil Riddervold Heimdal; Denise Horn; Gunnar Houge; Sophia B. Hufnagel; Denisa Ilencikova; Sophie Julia; Sarina G. Kant; Esther Kinning; Eric W. Klee; Chelsea Kois; Maja Kovacevi; c; A. M. A. (Guus) Lachmeijer; Brendan Lanpher; Marine Lebrun; Eyby Leon; Angie Ward Lichty; Ruth Lin; Isabel Llano-Rivas; Sally Ann Lynch; Saskia M. Maas; Silvia B. Maitz; Shane McKee; Daniela Melis; Elisabetta Merati; Giuseppe Merla; Ruth Newbury-Ecob; Mathilde Nizon; Soo-Mi Park; Jennifer Pat- terson; Florence Petit; Hilde Peeters; Luca Persani; Ivana Per- sico; Valentina Pes; Marzia Pollazzon; Thomas Potjer; Lor- raine Potocki; Carrie Pottinger; Chitra Prasad; Eloise J. Prijoles; Nicola K. Ragge; Jan Peter Rake; Conny M. A. van Ravenswaaij-Arts; Gillian Rea; Claudia Ruivenkamp; Au- drey Rutz; Sulagna C Saitta; Rossana Sanchez Russo; Gijs W. E. Santen; Elise Schaefer; Vandana Shashi; Laura Schultz-Rogers; Andrea Sluga; Stefano Sotgiu; Elisabeth Steichen-Gersdorf; Jennifer A. Sullivan; Yu Sun; Mohnish Suri; Marco Tartaglia; Matt Tedder; Paulien Terhal; Ian Tully; Nienke Verbeek; Maren Wenzel; Susan M. White; Bing Xiao.
HGG Adv
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
HGG Advances, Vol 5, Iss 4, Pp 100337-(2024)
MKHK Research Consortium 2024, 'Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles', Human Genetics and Genomics Advances, vol. 5, no. 3, 100287. https://doi.org/10.1016/j.xhgg.2024.100287
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
HGG Advances, Vol 5, Iss 4, Pp 100337-(2024)
MKHK Research Consortium 2024, 'Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles', Human Genetics and Genomics Advances, vol. 5, no. 3, 100287. https://doi.org/10.1016/j.xhgg.2024.100287
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Iris G. M. Wijnen; Hermine E. Veenstra-Knol; Fleur Vansenne; Erica H. Gerkes; Tom de Koning; Yvonne J. Vos; Marina A. J. Tijssen; Deborah Sival; Niklas Darin; Els K. Vanhoutte; Mayke Oosterloo; Maartje Pennings; Bart P. van de Warrenburg; Erik-Jan Kamsteeg
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Academic Journal
Thabo M. Yates; Morgan Drucker; Angela Barnicoat; Karen Low; Erica H. Gerkes; Andrew E. Fry; Michael J. Parker; Mary O'Driscoll; Perrine Charles; Helen Cox; Isabelle Marey; Boris Keren; Tuula Rinne; Meriel McEntagart; Vijaya Ramachandran; Suzanne Drury; Fleur Vansenne; Deborah A. Sival; Johanna C. Herkert; Bert Callewaert; Wen‐Hann Tan; Meena Balasubramanian
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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
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Aafke Engwerda; Barbara Frentz; A. Lya den Ouden; Boudien C. T. Flapper; Morris A. Swertz; Erica H. Gerkes; Mirjam Plantinga; Trijnie Dijkhuizen; Conny M. A. van Ravenswaaij-Arts
Eur J Hum Genet
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Nuria C. Bramswig; Hermann-Josef Lüdecke; Fadi F. Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; Daniel H. Lowenstein; Jacques L. Michaud; Kristen Park; Alexander P.A. Stegmann; Hermine E. Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M. Strom; Tjitske Kleefstra; Dagmar Wieczorek
Human Genetics, 136, 7, pp. 821-834
Hum. Genet. 136, 821-834 (2017)
Human Genetics
Hum. Genet. 136, 821-834 (2017)
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Pleuntje J. van der Sluijs; Mariëlle Alders; Alexander J. M. Dingemans; Kareesma Parbhoo; Bregje W. van Bon; Jennifer C. Dempsey; Dan Doherty; Johan T. den Dunnen; Erica H. Gerkes; Ilana M. Milller; Stephanie Moortgat; Debra S. Regier; Claudia A. L. Ruivenkamp; Betsy Schmalz; Thomas Smol; Kyra E. Stuurman; Catherine Vincent-Delorme; Bert B. A. de Vries; Bekim Sadikovic; Scott E. Hickey; Jill A. Rosenfeld; Isabelle Maystadt; Gijs W. E. Santen
Genes (Basel)
Genes
Volume 12
Issue 8
Genes, 12, 8
Paediatrics Publications
Genes
Volume 12
Issue 8
Genes, 12, 8
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Kirsten E. Craddock; Volkan Okur; Ashley Wilson; Erica H. Gerkes; Keri Ramsey; Jennifer M. Heeley; Jane Juusola; Antonio Vitobello; Marie-Noelle Bonnet Dupeyron; Laurence Faivre; Wendy K. Chung
Cold Spring Harb Mol Case Stud
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