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American journal of human genetics, 2015-09, Vol.97 (3), p.457-464
- Tanaka, Akemi J.
- Cho, Megan T.
- Millan, Francisca
- Juusola, Jane
- Retterer, Kyle
- Joshi, Charuta
- Niyazov, Dmitriy
- Garnica, Adolfo
- Gratz, Edward
- Deardorff, Matthew
- Wilkins, Alisha
- Ortiz-Gonzalez, Xilma
- Mathews, Katherine
- Panzer, Karin
- Brilstra, Eva
- van Gassen, Koen L.I.
- Volker-Touw, Catharina M.L.
- van Binsbergen, Ellen
- Sobreira, Nara
- Hamosh, Ada
- McKnight, Dianalee
- Monaghan, Kristin G.
- Chung, Wendy K.
2015
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American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1637-1654
- Durkin, Anna
- Albaba, Shadi
- Fry, Andrew E.
- Morton, Jenny E.
- Douglas, Andrew
- Beleza, Ana
- Williams, Denise
- Volker‐Touw, Catharina M.L.
- Lynch, Sally A.
- Canham, Natalie
- Clowes, Virginia
- Straub, Volker
- Lachlan, Katherine
- Gibbon, Frances
- El Gamal, Mayy
- Varghese, Vinod
- Parker, Michael J.
- Newbury‐Ecob, Ruth
- Turnpenny, Peter D.
- Gardham, Alice
- Ghali, Neeti
- Balasubramanian, Meena
2020
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American journal of human genetics, 2017-01, Vol.100 (1), p.151-159
- Ait-El-Mkadem, Samira
- Dayem-Quere, Manal
- Gusic, Mirjana
- Chaussenot, Annabelle
- Bannwarth, Sylvie
- François, Bérengère
- Genin, Emmanuelle C.
- Fragaki, Konstantina
- Volker-Touw, Catharina L.M.
- Vasnier, Christelle
- Serre, Valérie
- van Gassen, Koen L.I.
- Lespinasse, Françoise
- Richter, Susan
- Eisenhofer, Graeme
- Rouzier, Cécile
- Mochel, Fanny
- De Saint-Martin, Anne
- Abi Warde, Marie-Thérèse
- de Sain-van der Velde, Monique G.M.
- Jans, Judith J.M.
- Amiel, Jeanne
- Avsec, Ziga
- Mertes, Christian
- Haack, Tobias B.
- Strom, Tim
- Meitinger, Thomas
- Bonnen, Penelope E.
- Taylor, Robert W.
- Gagneur, Julien
- van Hasselt, Peter M.
- Rötig, Agnès
- Delahodde, Agnès
- Prokisch, Holger
- Fuchs, Sabine A.
- Paquis-Flucklinger, Véronique
2017
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BMC biology, 2016-12, Vol.14 (1), p.107-107, Article 107
2016
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Genetics in medicine, 2023-08, Vol.25 (8), p.100871-100871, Article 100871
- Rooney, Kathleen
- van der Laan, Liselot
- Trajkova, Slavica
- Haghshenas, Sadegheh
- Relator, Raissa
- Lauffer, Peter
- Vos, Niels
- Levy, Michael A.
- Brunetti-Pierri, Nicola
- Terrone, Gaetano
- Mignot, Cyril
- Keren, Boris
- de Villemeur, Thierry B.
- Volker-Touw, Catharina M.L.
- Verbeek, Nienke
- van der Smagt, Jasper J.
- Oegema, Renske
- Brusco, Alfredo
- Ferrero, Giovanni B.
- Misra-Isrie, Mala
- Hochstenbach, Ron
- Alders, Mariëlle
- Mannens, Marcel M.A.M.
- Sadikovic, Bekim
- van Haelst, Mieke M.
- Henneman, Peter
2023
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Annals of neurology, 2018-11, Vol.84 (5), p.788-795
- Mulhern, Maureen S.
- Stumpel, Constance
- Stong, Nicholas
- Brunner, Han G.
- Bier, Louise
- Lippa, Natalie
- Riviello, James
- Rouhl, Rob P. W.
- Kempers, Marlies
- Pfundt, Rolph
- Stegmann, Alexander P. A.
- Kukolich, Mary K.
- Telegrafi, Aida
- Lehman, Anna
- Lopez‐Rangel, Elena
- Houcinat, Nada
- Barth, Magalie
- den Hollander, Nicolette
- Hoffer, Mariette J. V.
- Weckhuysen, Sarah
- Roovers, Jolien
- Djemie, Tania
- Barca, Diana
- Ceulemans, Berten
- Craiu, Dana
- Lemke, Johannes R.
- Korff, Christian
- Mefford, Heather C.
- Meyers, Candace T.
- Siegler, Zsuzsanna
- Hiatt, Susan M.
- Cooper, Gregory M.
- Bebin, E. Martina
- Snijders Blok, Lot
- Veenstra‐Knol, Hermine E.
- Baugh, Evan H.
- Brilstra, Eva H.
- Volker‐Touw, Catharina M. L.
- van Binsbergen, Ellen
- Revah‐Politi, Anya
- Pereira, Elaine
- McBrian, Danielle
- Pacault, Mathilde
- Isidor, Bertrand
- Le Caignec, Cedric
- Gilbert‐Dussardier, Brigitte
- Bilan, Frederic
- Heinzen, Erin L.
- Goldstein, David B.
- Stevens, Servi J. C.
- Sands, Tristan T.
2018
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Canadian journal of cardiology, 2021-11, Vol.37 (11), p.1864-1866
2021
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Clinical dysmorphology, 2018-07, Vol.27 (3), p.78
2018
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Nature genetics, 2017-01, Vol.49 (1), p.36-45
- Redin, Claire
- Collins, Ryan L
- Hodge, Jennelle C
- Hanscom, Carrie
- Seabra, Catarina M
- Abbott, Mary-Alice
- Abdul-Rahman, Omar A
- Aberg, Erika
- Adley, Rhett
- Alkuraya, Fowzan S
- An, Yu
- Anderson, Mary-Anne
- Anyane-Yeboa, Kwame
- Atkin, Joan F
- Bartell, Tina
- Bernstein, Jonathan A
- Beyer, Elizabeth
- Brown, Chester W
- Chiang, Colby
- Corning, Ken
- Cox, Helen
- Cuppen, Edwin
- Cushing, Tom
- Deardorff, Matthew A
- Dheedene, Annelies
- D'Hooghe, Marc
- de Vries, Bert B A
- Earl, Dawn L
- Fisher, Heather
- Gerrol, Pamela
- Gliem, Troy
- Griffis, Cristin
- Gripp, Karen W
- Gropman, Andrea L
- Hanson-Kahn, Andrea
- Harris, David J
- Hayden, Mark A
- Hill, Rosamund
- Hochstenbach, Ron
- Hoffman, Jodi D
- Hopkin, Robert J
- Innes, A Micheil
- Irons, Mira
- Irving, Melita
- Jacobsen, Jessie C
- Janssens, Sandra
- Kahler, Stephen G
- Koolen, David A
- Korzelius, Jerome
- Kroisel, Peter M
- Lawless, William
- Leppig, Kathleen
- Levin, Alex V
- Liao, Eric C
- Lim, Cynthia
- Lucente, Diane
- Macera, Michael J
- Mandrile, Giorgia
- Marcelis, Carlo L
- Margolin, Lauren
- Mason, Tamara
- Masser-Frye, Diane
- Mendoza, Cinthya J Zepeda
- Menten, Björn
- Middelkamp, Sjors
- Mikami, Liya R
- Mortenson, Megan E
- Moya, Graciela
- Parkash, Sandhya
- Pauker, Susan P
- Pereira, Shahrin
- Phelan, Katy
- Poddighe, Pino J
- Pregno, Giulia
- Reis, Linda
- Rhead, William
- Renkens, Ivo
- Roelens, Filip
- Ruliera, Jayla
- Rump, Patrick
- Shaheen, Ranad
- Sparkes, Rebecca
- Stone, Matthew R
- Tagoe, Julia
- van Bon, Bregje W
- van Der Burgt, Ineke
- van Ravenswaaij-Arts, Conny M
- Vergult, Sarah
- Warburton, Dorothy P
- Waterman, Matthew J
- Wilson, Anna
- Yerena-de Vega, Maria de la Concepcion A
- Zori, Roberto T
- Levy, Brynn
- Brunner, Han G
- Kloosterman, Wigard P
- Thorland, Erik C
- Morton, Cynthia C
- Gusella, James F
- Talkowski, Michael E
2017
Link zum Volltext
American journal of human genetics, 2024-07
- Rots, Dmitrijs
- Bouman, Arianne
- Yamada, Ayumi
- Levy, Michael
- Dingemans, Alexander J.M.
- de Vries, Bert B.A.
- Ruiterkamp-Versteeg, Martina
- de Leeuw, Nicole
- Ockeloen, Charlotte W.
- Pfundt, Rolph
- de Boer, Elke
- Kummeling, Joost
- van Bon, Bregje
- van Bokhoven, Hans
- Kasri, Nael Nadif
- Venselaar, Hanka
- Alders, Marielle
- Kerkhof, Jennifer
- McConkey, Haley
- Kuechler, Alma
- Elffers, Bart
- van Beeck Calkoen, Rixje
- Hofman, Susanna
- Smith, Audrey
- Valenzuela, Maria Irene
- Srivastava, Siddharth
- Frazier, Zoe
- Maystadt, Isabelle
- Piscopo, Carmelo
- Merla, Giuseppe
- Balasubramanian, Meena
- Santen, Gijs W.E.
- Metcalfe, Kay
- Park, Soo-Mi
- Pasquier, Laurent
- Banka, Siddharth
- Donnai, Dian
- Weisberg, Daniel
- Strobl-Wildemann, Gertrud
- Wagemans, Annemieke
- Vreeburg, Maaike
- Baralle, Diana
- Foulds, Nicola
- Scurr, Ingrid
- Brunetti-Pierri, Nicola
- van Hagen, Johanna M.
- Bijlsma, Emilia K.
- Hakonen, Anna H.
- Courage, Carolina
- Genevieve, David
- Pinson, Lucile
- Forzano, Francesca
- Deshpande, Charu
- Kluskens, Maria L.
- Welling, Lindsey
- Plomp, Astrid S.
- Vanhoutte, Els K.
- Kalsner, Louisa
- Hol, Janna A.
- Putoux, Audrey
- Lazier, Johanna
- Vasudevan, Pradeep
- Ames, Elizabeth
- O'Shea, Jessica
- Lederer, Damien
- Fleischer, Julie
- O'Connor, Mary
- Pauly, Melissa
- Vasileiou, Georgia
- Reis, André
- Kiraly-Borri, Catherine
- Bouman, Arjan
- Barnett, Chris
- Nezarati, Marjan
- Borch, Lauren
- Beunders, Gea
- Özcan, Kübra
- Miot, Stéphanie
- Volker-Touw, Catharina M.L.
- van Gassen, Koen L.I.
- Cappuccio, Gerarda
- Janssens, Katrien
- Mor, Nofar
- Shomer, Inna
- Dominissini, Dan
- Tedder, Matthew L.
- Muir, Alison M.
- Sadikovic, Bekim
- Brunner, Han G.
- Vissers, Lisenka E.L.M.
- Shinkai, Yoichi
- Kleefstra, Tjitske
2024
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