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Journal of genetic counseling, 2018-08, Vol.27 (4), p.844-853
2018
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American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.525-533
2019
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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
- Bogaard, Pauline
- Leenskjold, Stine
- Karaer, Kadri
- Wild, Katherine T.
- Grand, Katheryn L.
- Astiazaran, Mirena C.
- Gonzalez-Nieto, Luis A.
- Carvalho, Ana
- Lehalle, Daphné
- Amudhavalli, Shivarajan M.
- Repnikova, Elena
- Saunders, Carol
- Thiffault, Isabelle
- Saadi, Irfan
- Li, Dong
- Hakonarson, Hakon
- Vial, Yoann
- Zackai, Elaine
- Callier, Patrick
- Drunat, Séverine
- Verloes, Alain
2019
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American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2136-2149
2021
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Pediatric dermatology, 2020-05, Vol.37 (3), p.548-553
2020
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American journal of medical genetics. Part A, 2019-04, Vol.179 (4)
2019
Link zum Volltext
American journal of medical genetics. Part A, 2021, Vol.185 (7), p.2136-2149
2021
Link zum Volltext
Pediatric dermatology, 2020, Vol.37 (3), p.548-553
2020
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Frontiers in pharmacology, 2022-12, Vol.13, p.1093313-1093313
2022
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Human genetics, 2021-07, Vol.140 (7), p.1061-1076
- Li, Dong
- March, Michael E.
- Fortugno, Paola
- Cox, Liza L.
- Matsuoka, Leticia S.
- Monetta, Rosanna
- Seiler, Christoph
- Pyle, Louise C.
- Bedoukian, Emma C.
- Sánchez-Soler, María José
- Caluseriu, Oana
- Grand, Katheryn
- Tam, Allison
- Aycinena, Alicia R. P.
- Camerota, Letizia
- Guo, Yiran
- Sleiman, Patrick
- Callewaert, Bert
- Kumps, Candy
- Dheedene, Annelies
- Buckley, Michael
- Kirk, Edwin P.
- Turner, Anne
- Kamien, Benjamin
- Patel, Chirag
- Wilson, Meredith
- Roscioli, Tony
- Christodoulou, John
- Cox, Timothy C.
- Zackai, Elaine H.
- Brancati, Francesco
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2021
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American journal of human genetics, 2021-03, Vol.108 (3), p.502-516
- Radio, Francesca Clementina
- Ciolfi, Andrea
- Levy, Michael A.
- Hernández-García, Andrés
- Pedace, Lucia
- Pantaleoni, Francesca
- Liu, Zhandong
- de Boer, Elke
- Jackson, Adam
- Bruselles, Alessandro
- McConkey, Haley
- Stellacci, Emilia
- Lo Cicero, Stefania
- Motta, Marialetizia
- Carrozzo, Rosalba
- McWalter, Kirsty
- Desai, Megha
- Monaghan, Kristin G.
- Telegrafi, Aida
- Philippe, Christophe
- Vitobello, Antonio
- Au, Margaret
- Grand, Katheryn
- Baez, Joanne
- Lindstrom, Kristin
- Kulch, Peggy
- Sebastian, Jessica
- Madan-Khetarpal, Suneeta
- Roadhouse, Chelsea
- MacKenzie, Jennifer J.
- Monteleone, Berrin
- Saunders, Carol J.
- Jean Cuevas, July K.
- Zhou, Dihong
- Sawyer, Sarah L.
- Monteiro, Fabíola Paoli
- Secches, Tania Vertemati
- Kok, Fernando
- Schultz-Rogers, Laura E.
- Morava, Eva
- Klee, Eric W.
- Kemppainen, Jennifer
- Iascone, Maria
- Selicorni, Angelo
- Tenconi, Romano
- Pais, Lynn
- Gallacher, Lyndon
- Turnpenny, Peter D.
- Stals, Karen
- Ellard, Sian
- Cabet, Sara
- Lesca, Gaetan
- Pascal, Joset
- Steindl, Katharina
- Weiss, Karin
- Carter, Melissa T.
- Kalsner, Louisa
- de Vries, Bert B.A.
- van Bon, Bregje W.
- Wevers, Marijke R.
- Pfundt, Rolph
- Stegmann, Alexander P.A.
- Kerr, Bronwyn
- Chandler, Kate E.
- Sheehan, Willow
- Elias, Abdallah F.
- Shinde, Deepali N.
- Towne, Meghan C.
- Robin, Nathaniel H.
- Goodloe, Dana
- Vanderver, Adeline
- Sherbini, Omar
- Bluske, Krista
- Faletra, Flavio
- Musante, Luciana
- Kurtz-Nelson, Evangeline C.
- Earl, Rachel K.
- Anderlid, Britt-Marie
- Morin, Gilles
- van Slegtenhorst, Marjon
- Diderich, Karin E.M.
- Brooks, Alice S.
- Gribnau, Joost
- Boers, Ruben G.
- Finestra, Teresa Robert
- Carter, Lauren B.
- Rauch, Anita
- Gasparini, Paolo
- Boycott, Kym M.
- Barakat, Tahsin Stefan
- Graham, John M.
- Faivre, Laurence
- Banka, Siddharth
- Wang, Tianyun
- Eichler, Evan E.
- Dallapiccola, Bruno
- Vissers, Lisenka E.L.M.
- Sadikovic, Bekim
- Holder, Jimmy Lloyd
- Tartaglia, Marco
2021
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American journal of medical genetics. Part C, Seminars in medical genetics, 2023-12, p.e32079-e32079
2023
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Neurology, 2024-01, Vol.102 (2), p.e207945
- Gokce-Samar, Zeynep
- Vetro, Annalisa
- De Bellescize, Julitta
- Pisano, Tiziana
- Monteiro, Laloe
- Penaud, Noémie
- Korff, Christian M
- Fluss, Joel
- Marini, Carla
- Cesaroni, Elisabetta
- Alvarez, Blanca Mercedes
- Sanlaville, Damien
- Chatron, Nicolas
- Arzimanoglou, Alexis A
- Labalme, Audrey
- Cuddapah, Vishnu A
- Ruggiero, Sarah M
- Lecoquierre, Francois
- Nicolas, Gael
- Marie, Guerrot Anne
- Lebas, Axel
- Testard, Herve O
- Helbig, Katherine L
- Ruiz, Anna
- Ngoh, Adeline
- Kurian, Manju A
- Reid, Kimberley
- Spaull, Robert
- Joset, Pascal
- Ramantani, Georgia
- Steindl, Katharina
- Krenn, Martin
- Gerstl, Lucia
- Vieker, Silvia
- Craiu, Dana
- Pendziwiat, Manuela
- Haldeman-Englert, Chad
- Kanivets, Ilya
- Romanova, Irina
- Rajan, Deepa S
- Rosenfeld, Jill A
- Au, Margaret
- Grand, Katheryn
- Graham, Jr, John
- Isapof, Arnaud
- Villeneuve, Nathalie
- Smol, Thomas
- Caumes, Roseline
- Zacher, Pia
- Neuser, Sonja
- Tinschert, Sigrid
- Platzer, Konrad
- Bartolomaeus, Tobias
- Mohnke, Ines
- Radtke, Maximilian
- Jamra, Rami Abou
- Helbig, Ingo
- Jansen, Floortje E
- Koop, Klaas
- Rudolf, Gabrielle
- Küry, Sebastien
- Courchet, Julien
- Guerrini, Renzo
- Lesca, Gaetan
2024
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Annals of clinical and translational neurology, 2022-12, Vol.9 (12), p.1941-1952
- Lee, Michelle M.
- McDowell, Graeme S. V.
- De Vivo, Darryl C.
- Friedman, Daniel
- Berkovic, Samuel F.
- Spanou, Maria
- Dinopoulos, Argirios
- Grand, Katheryn
- Sanchez‐Lara, Pedro A.
- Allen‐Sharpley, Michelle
- Warman‐Chardon, Jodi
- Solyom, Alexander
- Levade, Thierry
- Schuchman, Edward H.
- Bennett, Steffany A. L.
- Dyment, David A.
- Pearson, Toni S.
2022
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2824-2828
2021
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Genetics in medicine, 2022-11, Vol.24 (11), p.2351-2366
- Kayumi, Sayaka
- Pérez-Jurado, Luis A.
- Palomares, María
- Rangu, Sneha
- Sheppard, Sarah E.
- Chung, Wendy K.
- Kruer, Michael C.
- Kharbanda, Mira
- Amor, David J.
- McGillivray, George
- Cohen, Julie S.
- García-Miñaúr, Sixto
- van Eyk, Clare L.
- Harper, Kelly
- Jolly, Lachlan A.
- Webber, Dani L.
- Barnett, Christopher P.
- Santos-Simarro, Fernando
- Pacio-Míguez, Marta
- Pozo, Angela del
- Bakhtiari, Somayeh
- Deardorff, Matthew
- Dubbs, Holly A.
- Izumi, Kosuke
- Grand, Katheryn
- Gray, Christopher
- Mark, Paul R.
- Bhoj, Elizabeth J.
- Li, Dong
- Ortiz-Gonzalez, Xilma R.
- Keena, Beth
- Zackai, Elaine H.
- Goldberg, Ethan M.
- Perez de Nanclares, Guiomar
- Pereda, Arrate
- Llano-Rivas, Isabel
- Arroyo, Ignacio
- Fernández-Cuesta, María Ángeles
- Thauvin-Robinet, Christel
- Faivre, Laurence
- Garde, Aurore
- Mazel, Benoit
- Bruel, Ange-Line
- Tress, Michael L.
- Brilstra, Eva
- Fine, Amena Smith
- Crompton, Kylie E.
- Stegmann, Alexander P.A.
- Sinnema, Margje
- Stevens, Servi C.J.
- Nicolai, Joost
- Lesca, Gaetan
- Lion-François, Laurence
- Haye, Damien
- Chatron, Nicolas
- Piton, Amelie
- Nizon, Mathilde
- Cogne, Benjamin
- Srivastava, Siddharth
- Bassetti, Jennifer
- Muss, Candace
- Gripp, Karen W.
- Procopio, Rebecca A.
- Millan, Francisca
- Morrow, Michelle M.
- Assaf, Melissa
- Moreno-De-Luca, Andres
- Joss, Shelagh
- Hamilton, Mark J.
- Bertoli, Marta
- Foulds, Nicola
- McKee, Shane
- MacLennan, Alastair H.
- Gecz, Jozef
- Corbett, Mark A.
2022
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2636-2645
2021
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2766-2775
2021
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.162-168
2020
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American journal of human genetics, 2017-07, Vol.101 (1), p.139-148
- Skraban, Cara M.
- Wells, Constance F.
- Markose, Preetha
- Cho, Megan T.
- Nesbitt, Addie I.
- Au, P.Y. Billie
- Begtrup, Amber
- Bernat, John A.
- Bird, Lynne M.
- Cao, Kajia
- de Brouwer, Arjan P.M.
- Denenberg, Elizabeth H.
- Douglas, Ganka
- Gibson, Kristin M.
- Grand, Katheryn
- Goldenberg, Alice
- Innes, A. Micheil
- Juusola, Jane
- Kempers, Marlies
- Kinning, Esther
- Markie, David M.
- Owens, Martina M.
- Payne, Katelyn
- Person, Richard
- Pfundt, Rolph
- Stocco, Amber
- Turner, Claire L.S.
- Verbeek, Nienke E.
- Walsh, Laurence E.
- Warner, Taylor C.
- Wheeler, Patricia G.
- Wieczorek, Dagmar
- Wilkens, Alisha B.
- Zonneveld-Huijssoon, Evelien
- Kleefstra, Tjitske
- Robertson, Stephen P.
- Santani, Avni
- van Gassen, Koen L.I.
- Deardorff, Matthew A.
2017
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American journal of medical genetics. Part A, 2019-11, Vol.182 (1), p.162-168
2019
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American journal of medical genetics. Part A, 2021, Vol.185 (9), p.2824-2828
2021
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