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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Archives of disease in childhood, 2006-03, Vol.91 (3), p.219-221
2006
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Human genetics, 2023-03, Vol.142 (3), p.343-350
2023
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Clinical genetics, 2009-02, Vol.75 (2), p.175-179
2009
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Journal of pain research, 2011, Vol.4, p.297-300
2011
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American journal of human genetics, 2018-11, Vol.103 (5), p.666-678
- Helbig, Katherine L.
- Lauerer, Robert J.
- Bahr, Jacqueline C.
- Souza, Ivana A.
- Uysal, Betül
- Gandini, Maria A.
- Huang, Sun
- Keren, Boris
- Mignot, Cyril
- Billette de Villemeur, Thierry
- Nava, Caroline
- Valence, Stéphanie
- Buratti, Julien
- Fagerberg, Christina R.
- Soerensen, Kristina P.
- Kamsteeg, Erik-Jan
- Koolen, David A.
- Gunning, Boudewijn
- Schelhaas, H. Jurgen
- Fox, Jordana
- Bakhtiari, Somayeh
- Jarrar, Randa
- Lindstrom, Kristin
- Jin, Sheng Chih
- Zeng, Xue
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- Papavasileiou, Antigone
- Xing, Qinghe
- Zhu, Changlian
- Boysen, Katja
- Vairo, Filippo
- Klee, Eric W.
- Tillema, Jan-Mendelt
- Payne, Eric T.
- Cousin, Margot A.
- Kruisselbrink, Teresa M.
- Wick, Myra J.
- Baker, Joshua
- Smith, Nicholas
- Angrist, Misha
- Ashley, Patricia
- Bidegain, Margarita
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- Cope, Heidi
- Cotten, C. Michael
- Curington, Theresa
- Davis, Erica E.
- Fisher, Kimberley
- French, Amanda
- Gallentine, William
- Hill, Kevin
- Kansagra, Sujay
- Katsanis, Sara
- Kurtzberg, Joanne
- Marcus, Jeffrey
- McDonald, Marie
- Mikati, Mohammed
- Miller, Stephen
- Murtha, Amy
- Perilla, Yezmin
- Pizoli, Carolyn
- Ross, Sherry
- Sadeghpour, Azita
- Smith, Edward
- Wiener, John
- Corbett, Mark A.
- Goldmann, Eva
- Kichula, Elizabeth
- Segal, Eric
- Jackson, Kelly E.
- Asamoah, Alexander
- McCarrier, Julie
- Botto, Lorenzo D.
- Tvrdik, Tatiana
- Cascino, Gregory D.
- Klingerman, Sherry
- Neumann, Catherine
- Nolan, Melinda A.
- Snell, Russell G.
- Lehnert, Klaus
- Sadleir, Lynette G.
- Kvarnung, Malin
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- Friez, Michael J.
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- Banka, Siddharth
- Scheffer, Ingrid E.
- Zamponi, Gerald W.
- Mefford, Heather C.
2018
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Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.235-239
2009
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European journal of medical genetics, 2012-10, Vol.55 (10), p.557-560
2012
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American journal of human genetics, 2019-08, Vol.105 (2), p.283-301
- Haijes, Hanneke A.
- Koster, Maria J.E.
- Rehmann, Holger
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- Pagnamenta, Alistair T.
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- Vos, Harmjan R.
- van Es, Robert M.
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- Kibaek, Maria
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- Petrovski, Slave
- Fagerberg, Christina
- Martin, Donna M.
- van Gassen, Koen L.I.
- Pfundt, Rolph
- Falk, Marni J.
- McCormick, Elizabeth M.
- Timmers, H.T. Marc
- van Hasselt, Peter M.
2019
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Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.65-65, Article 65
2015
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Human mutation, 2015-04, Vol.36 (4), p.454-462
- Gil-Rodríguez, María Concepción
- Deardorff, Matthew A.
- Ansari, Morad
- Tan, Christopher A.
- Parenti, Ilaria
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- Fisher, Richard
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- Gillessen-Kaesbach, Gabriele
- Guo, Yiran
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- Kaur, Maninder
- Keating, Brendan J.
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- Li, Yun R.
- Liu, Xuanzhu
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- So, Joyce
- Wusik, Katherine A.
- Wilson, Louise
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- Jackson, Laird G.
- Krantz, Ian D.
- Das, Soma
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- Kaiser, Frank J.
- FitzPatrick, David R.
- Pié, Juan
2015
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American journal of human genetics, 2019-03, Vol.104 (3), p.562-562
- Lauerer, Robert J.
- Bahr, Jacqueline C.
- Souza, Ivana A.
- Myers, Candace T.
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- Afenjar, Alexandra
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- Buratti, Julien
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- Davis, Erica E.
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- Ashley, Patricia
- Bidegain, Margarita
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- Cope, Heidi
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- Gallentine, William
- Hill, Kevin
- Kansagra, Sujay
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- Kurtzberg, Joanne
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- Guerrini, Renzo
- Lyons, Michael J.
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- Zeman, Adam
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- Lerche, Holger
- Mefford, Heather C.
2019
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Human genetics, 2006-02, Vol.118 (6), p.680-690
2006
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Clinical genetics, 2009, Vol.75 (2), p.175-179
2009
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Journal of pain research, 2011-09, Vol.2011 (default), p.297-300
2011
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European journal of medical genetics, 2005-04, Vol.48 (2), p.97-111
- Zweier, Christiane
- Thiel, Christian T
- Dufke, Andreas
- Crow, Yanick J
- Meinecke, Peter
- Suri, Mohnish
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- Firth, Helen
- Gallagher, Renata C
- Garavelli, Livia
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- Kibaek, Maria
- Krogh, Lotte Nylandsted
- Peippo, Maarit
- Rittinger, Olaf
- Schulz, Solveig
- L Schelley, Susan
- Temple, I Karen
- Dennis, Nick R
- Van der Knaap, Marjo S
- Wheeler, Patricia
- Yerushalmi, Baruch
- Zenker, Martin
- Seidel, Heide
- Lachmeijer, A
- Prescott, Trine
- Kraus, Cornelia
- Lowry, R Brian
- Rauch, Anita
2005
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Ugeskrift for læger, 1994-01, Vol.156 (4), p.485
1994
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Ugeskrift for læger, 1991-11, Vol.153 (45), p.3138
1991
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European journal of medical genetics, 2019-12, Vol.62 (12), p.103588-103588, Article 103588
- Bhoj, Elizabeth J.
- Haye, Damien
- Toutain, Annick
- Bonneau, Dominique
- Nielsen, Irene Kibæk
- Lund, Ida Bay
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- Leenskjold, Stine
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- Wild, Katherine T.
- Grand, Katheryn L.
- Astiazaran, Mirena C.
- Gonzalez-Nieto, Luis A.
- Carvalho, Ana
- Lehalle, Daphné
- Amudhavalli, Shivarajan M.
- Repnikova, Elena
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- Li, Dong
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2019
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
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2021
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Nature immunology, 2022-02, Vol.23 (2), p.330-340
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2023
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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
- Nagy, Dóra
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2022
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2019
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2017
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