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American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.227-239
2014
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Nature communications, 2022-08, Vol.13 (1), p.4966-4966, Article 4966
2022
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Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1508-n/a
- Tan, Natalie B.
- Stapleton, Rachel
- Stark, Zornitza
- Delatycki, Martin B.
- Yeung, Alison
- Hunter, Matthew F.
- Amor, David J.
- Brown, Natasha J.
- Stutterd, Chloe A.
- McGillivray, George
- Yap, Patrick
- Regan, Matthew
- Chong, Belinda
- Fanjul Fernandez, Miriam
- Marum, Justine
- Phelan, Dean
- Pais, Lynn S.
- White, Susan M.
- Lunke, Sebastian
- Tan, Tiong Y.
2020
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Brain communications, 2021-01, Vol.3 (1), p.fcaa221-fcaa221
2021
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Neurology, 2021-04, Vol.96 (14), p.e1898
2021
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Genetics in medicine, 2020-10, Vol.22 (10), p.1623-1632
- Ma, Alan
- Yousoof, Saira
- Grigg, John R.
- Flaherty, Maree
- Minoche, Andre E.
- Cowley, Mark J.
- Nash, Benjamin M.
- Ho, Gladys
- Gayagay, Thet
- Lai, Tiffany
- Farnsworth, Elizabeth
- Hackett, Emma L.
- Fisk, Katrina
- Wong, Karen
- Holman, Katherine J.
- Jenkins, Gemma
- Cheng, Anson
- Martin, Frank
- Karaconji, Tanya
- Elder, James E.
- Enriquez, Annabelle
- Wilson, Meredith
- Amor, David J.
- Stutterd, Chloe A.
- Kamien, Benjamin
- Nelson, John
- Dinger, Marcel E.
- Bennetts, Bruce
- Jamieson, Robyn V.
2020
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European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.521-525
- Francis, David I
- Stark, Zornitza
- Scheffer, Ingrid E
- Tan, Tiong Yang
- Murali, Krithika
- Gallacher, Lyndon
- Amor, David J
- Goel, Himanshu
- Downie, Lilian
- Stutterd, Chloe A
- Krzesinski, Emma I
- Vasudevan, Anand
- Oertel, Ralph
- Petrovic, Vida
- Boys, Amber
- Wei, Vivian
- Burgess, Trent
- Dun, Karen
- Oliver, Karen L
- Baxter, Anne
- Hackett, Anna
- Ayres, Samantha
- Lunke, Sebastian
- Kalitsis, Paul
- Wall, Meaghan
2023
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Journal of the neurological sciences, 2021-01, Vol.420, p.117260-117260, Article 117260
- Eratne, Dhamidhu
- Schneider, Amy
- Lynch, Ella
- Martyn, Melissa
- Velakoulis, Dennis
- Fahey, Michael
- Kwan, Patrick
- Leventer, Richard
- Rafehi, Haloom
- Chong, Belinda
- Stark, Zornitza
- Lunke, Sebastian
- Phelan, Dean G.
- O'Keefe, Melanie
- Siemering, Kirby
- West, Kirsty
- Sexton, Adrienne
- Jarmolowicz, Anna
- Taylor, Jessica A.
- Schultz, Joshua
- Purvis, Rebecca
- Uebergang, Eloise
- Chalinor, Heather
- Creighton, Belinda
- Gelfand, Nikki
- Saks, Tamar
- Prawer, Yael
- Smagarinsky, Yana
- Pan, Tianxin
- Goranitis, Ilias
- Ademi, Zanfina
- Gaff, Clara
- Huq, Aamira
- Walsh, Maie
- James, Paul A.
- Krzesinski, Emma I.
- Wallis, Mathew
- Stutterd, Chloe A.
- Bahlo, Melanie
- Delatycki, Martin B.
- Berkovic, Samuel F.
2021
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Journal of child neurology, 2021-02, Vol.36 (2), p.152-158
2021
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Human mutation, 2019-05, Vol.40 (5), p.619-630
- Lenk, Guy M.
- Berry, Ian R.
- Stutterd, Chloe A.
- Blyth, Moira
- Green, Lydia
- Vadlamani, Gayatri
- Warren, Daniel
- Craven, Ian
- Fanjul‐Fernandez, Miriam
- Rodriguez‐Casero, Victoria
- Lockhart, Paul J.
- Vanderver, Adeline
- Simons, Cas
- Gibb, Susan
- Sadedin, Simon
- White, Susan M.
- Christodoulou, John
- Skibina, Olga
- Ruddle, Jonathan
- Tan, Tiong Y.
- Leventer, Richard J.
- Livingston, John H.
- Meisler, Miriam H.
2019
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European journal of medical genetics, 2020-04, Vol.63 (4), p.103774-103774, Article 103774
2020
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European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.271-279
- Ghosh, Shereen G
- Scala, Marcello
- Beetz, Christian
- Helman, Guy
- Stanley, Valentina
- Yang, Xiaoxu
- Breuss, Martin W
- Mazaheri, Neda
- Selim, Laila
- Hadipour, Fatemeh
- Pais, Lynn
- Stutterd, Chloe A
- Karageorgou, Vasiliki
- Begtrup, Amber
- Crunk, Amy
- Juusola, Jane
- Willaert, Rebecca
- Flore, Leigh A
- Kennelly, Kelly
- Spencer, Christopher
- Brown, Martha
- Trapane, Pamela
- Hurst, Anna C E
- Lane Rutledge, S
- Goodloe, Dana H
- McDonald, Marie T
- Shashi, Vandana
- Schoch, Kelly
- Tomoum, Hoda
- Zaitoun, Raghda
- Hadipour, Zahra
- Galehdari, Hamid
- Pagnamenta, Alistair T
- Mojarrad, Majid
- Sedaghat, Alireza
- Dias, Patrícia
- Quintas, Sofia
- Eslahi, Atiyeh
- Shariati, Gholamreza
- Bauer, Peter
- Simons, Cas
- Houlden, Henry
- Issa, Mahmoud Y
- Zaki, Maha S
- Maroofian, Reza
- Gleeson, Joseph G
2021
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Human mutation, 2020-03, Vol.41 (3), p.591-599
- Yigit, Gökhan
- Saida, Ken
- DeMarzo, Danielle
- Miyake, Noriko
- Fujita, Atsushi
- Yang Tan, Tiong
- White, Susan M.
- Wadley, Alexandrea
- Toliat, Mohammad R.
- Motameny, Susanne
- Franitza, Marek
- Stutterd, Chloe A.
- Chong, Pin F.
- Kira, Ryutaro
- Sengoku, Toru
- Ogata, Kazuhiro
- Guillen Sacoto, Maria J.
- Fresen, Christine
- Beck, Bodo B.
- Nürnberg, Peter
- Dieterich, Christoph
- Wollnik, Bernd
- Matsumoto, Naomichi
- Altmüller, Janine
2020
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American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2941-2950
2021
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Pediatric neurology, 2021-08, Vol.121, p.11-19
- Helman, Guy
- Zerem, Ayelet
- Almad, Akshata
- Hacker, Julia L.
- Woidill, Sarah
- Sase, Sunetra
- LeFevre, Alexandra N.
- Ekstein, Josef
- Johansson, Martin M.
- Stutterd, Chloe A.
- Taft, Ryan J.
- Simons, Cas
- Grinspan, Judith B.
- Pizzino, Amy
- Schmidt, Johanna L.
- Harding, Brian
- Hirsch, Yoel
- Viaene, Angela N.
- Fattal-Valevski, Aviva
- Vanderver, Adeline
2021
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American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25
- Crow, Yanick J
- Marshall, Heather
- Rice, Gillian I
- Seabra, Luis
- Jenkinson, Emma M
- Baranano, Kristin
- Battini, Roberta
- Berger, Andrea
- Blair, Edward
- Blauwblomme, Thomas
- Bolduc, Francois
- Boddaert, Natalie
- Buckard, Johannes
- Burnett, Heather
- Calvert, Sophie
- Caumes, Roseline
- Ng, Andy Cheuk‐Him
- Chiang, Diana
- Clifford, David B
- Cordelli, Duccio M
- Burca, Anna
- Demic, Natasha
- Desguerre, Isabelle
- De Waele, Liesbeth
- Di Fonzo, Alessio
- Dunham, S. Richard
- Dyack, Sarah
- Elmslie, Frances
- Ferrand, Mickaël
- Fisher, Gemma
- Karimiani, Ehsan Ghayoor
- Ghoumid, Jamal
- Gibbon, Frances
- Goel, Himanshu
- Hilmarsen, Hilde T
- Hughes, Imelda
- Jacob, Anu
- Jones, Elizabeth A
- Kumar, Ram
- Leventer, Richard J
- MacDonald, Shelley
- Maroofian, Reza
- Mehta, Sarju G
- Metz, Imke
- Monfrini, Edoardo
- Neumann, Daniela
- Noetzel, Michael
- O'Driscoll, Mary
- Õunap, Katrin
- Panzer, Axel
- Parikh, Sumit
- Prabhakar, Prab
- Ramond, Francis
- Sandford, Richard
- Saneto, Russell
- Soh, Calvin
- Stutterd, Chloe A
- Subramanian, Gopinath M
- Talbot, Kevin
- Thomas, Rhys H
- Toro, Camilo
- Touraine, Renaud
- Wakeling, Emma
- Wassmer, Evangeline
- Whitney, Andrea
- Livingston, John H
- O'Keefe, Raymond T
- Badrock, Andrew P
2021
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Neurology. Genetics, 2021-04, Vol.7 (2), p.e559-e559
- Stellingwerff, Menno D
- Figuccia, Sonia
- Bellacchio, Emanuele
- Alvarez, Karin
- Castiglioni, Claudia
- Topaloglu, Pinar
- Stutterd, Chloe A
- Erasmus, Corrie E
- Sanchez-Valle, Amarilis
- Lebon, Sebastien
- Hughes, Sarah
- Schmitt-Mechelke, Thomas
- Vasco, Gessica
- Chow, Gabriel
- Rahikkala, Elisa
- Dallabona, Cristina
- Okuma, Cecilia
- Aiello, Chiara
- Goffrini, Paola
- Abbink, Truus E M
- Bertini, Enrico S
- Van der Knaap, Marjo S
2021
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American journal of human genetics, 2024-03, Vol.111 (3), p.509-528
- Pérez Baca, María del Rocío
- Jacobs, Eva Z.
- Vantomme, Lies
- Leblanc, Pontus
- Bogaert, Elke
- Dheedene, Annelies
- De Cock, Laurenz
- Haghshenas, Sadegheh
- Foroutan, Aidin
- Levy, Michael A.
- Kerkhof, Jennifer
- McConkey, Haley
- Chen, Chun-An
- Batzir, Nurit Assia
- Wang, Xia
- Carels, Marieke
- Agrawal, Pankaj
- Armstrong Scott, Daryl
- Bellini, Melissa
- Beneteau, Claire
- Bjørgo, Kathrine
- Brooks, Alice
- Brown, Natasha
- Castle, Alison
- Castro, Diana
- Chorin, Odelia
- Cleghorn, Mark
- Clement, Emma
- Coman, David
- Costin, Carrie
- Devriendt, Koen
- Dong, Dexin
- Dries, Annika
- Duelund Hjortshøj, Tina
- Dyment, David
- Eng, Christine
- Genetti, Casie
- Grano, Siera
- Henneman, Peter
- Heron, Delphine
- Hoffmann, Katrin
- Du, Haowei
- Isidor, Bertrand
- Järvelä, Irma E.
- Jones, Julie
- Keren, Boris
- Kohlhase, Jürgen
- Lalani, Seema
- Le Caignec, Cedric
- Lewis, Andi
- Lovgren, Alysia
- Lupski, James R.
- Lyons, Mike
- Lysy, Philippe
- Manning, Melanie
- Marcelis, Carlo
- McLean, Scott Douglas
- Mercie, Sandra
- Mertens, Mareike
- Molin, Arnaud
- Nugent, Kimberly Margaret
- Öhman, Susanna
- O'Leary, Melanie
- Okashah Littlejohn, Rebecca
- Petit, Florence
- Pfundt, Rolph
- Pottocki, Lorraine
- Raas-Rotschild, Annick
- Ranguin, Kara
- Revencu, Nicole
- Rosenfeld, Jill
- Rhodes, Lindsay
- Sals, Karen
- Schrauwen, Isabelle
- Schuurs-Hoeijmakers, Janneke H.M.
- Seaby, Eleanor G.
- Sheffer, Ruth
- Snijders Blok, Lot
- Sørensen, Kristina P.
- Srivastava, Siddharth
- Stark, Zornitza
- Stoeva, Radka
- Stutterd, Chloe
- Tan, Natalie B.
- Mathiesen Torring, Pernille
- Vanakker, Olivier
- van der Laan, Liselot
- Ververi, Athina
- Vincent, Marie
- Wand, Dorothea
- Wessels, Marja
- White, Sue
- Wojcik, Monica H.
- Wu, Nan
- Zhao, Sen
- Dermaut, Bart
- Sadikovic, Bekim
- Yuan, Bo
- Vergult, Sarah
- Callewaert, Bert
2024
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Human mutation, 2019-05, Vol.40 (5), p.619-630
- Lenk, Guy M.
- Berry, Ian R.
- Stutterd, Chloe A.
- Blyth, Moira
- Green, Lydia
- Vadlamani, Gayatri
- Warren, Daniel
- Craven, Ian
- Fanjul-Fernandez, Miriam
- Rodriguez-Casero, Victoria
- Lockhart, Paul J.
- Vanderver, Adeline
- Simons, Cas
- Gibb, Susan
- Sadedin, Simon
- White, Susan M.
- Christodoulou, John
- Skibina, Olga
- Ruddle, Jonathan
- Tan, Tiong Y.
- Leventer, Richard J.
- Livingston, John H.
- Meisler, Miriam H.
2019
Link zum Volltext
Genetics in medicine, 2020-12, Vol.22 (12), p.1986-1993
- Yeung, Alison
- Tan, Natalie B
- Tan, Tiong Y
- Stark, Zornitza
- Brown, Natasha
- Hunter, Matthew F
- Delatycki, Martin
- Stutterd, Chloe
- Savarirayan, Ravi
- Mcgillivray, George
- Stapleton, Rachel
- Kumble, Smitha
- Downie, Lilian
- Regan, Matthew
- Lunke, Sebastian
- Chong, Belinda
- Phelan, Dean
- Brett, Gemma R
- Jarmolowicz, Anna
- Prawer, Yael
- Valente, Giulia
- Smagarinsky, Yana
- Martyn, Melissa
- McEwan, Callum
- Goranitis, Ilias
- Gaff, Clara
- White, Susan M
2020
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Fertility & reproduction, 2022-09, Vol.4 (3n04), p.161-161
2022
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Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.134-139
- Armangue, Thais
- Orsini, Joseph J.
- Takanohashi, Asako
- Gavazzi, Francesco
- Conant, Alex
- Ulrick, Nicole
- Morrissey, Mark A.
- Nahhas, Norah
- Helman, Guy
- Gordish-Dressman, Heather
- Orcesi, Simona
- Tonduti, Davide
- Stutterd, Chloe
- van Haren, Keith
- Toro, Camilo
- Iglesias, Alejandro D.
- van der Knaap, Marjo S.
- Goldbach Mansky, Raphaela
- Moser, Anne B.
- Jones, Richard O.
- Vanderver, Adeline
2017
Link zum Volltext
Brain (London, England : 1878), 2022-09, Vol.145 (9), p.2991-3009
- Johannesen, Katrine M
- Koko, Mahmoud
- Gjerulfsen, Cathrine E
- Schubert, Julian
- Eltokhi, Ahmed
- Koch, Nils A
- Lauxmann, Stephan
- Krüger, Johanna
- Kegele, Josua
- Canafoglia, Laura
- Franceschetti, Silvana
- Mayer, Thomas
- Rebstock, Johannes
- Zacher, Pia
- Sterbova, Katalin
- Vlckova, Marketa
- Platzer, Konrad
- Krey, Ilona
- Heine, Constanze
- Wieczorek, Dagmar
- Kroell-Seger, Judith
- Lund, Caroline
- Klein, Karl Martin
- Au, P Y Billie
- Rho, Jong M
- Ho, Alice W
- Masnada, Silvia
- Veggiotti, Pierangelo
- Giordano, Lucio
- Accorsi, Patrizia
- Hoei-Hansen, Christina E
- Zara, Federico
- Verhelst, Helene
- Verhoeven, Judith S
- van der Zwaag, Bert
- Harder, Aster V E
- Brilstra, Eva
- Vaccarezza, Maria
- Le, Ngoc Minh
- Christensen, Jakob
- Grønborg, Sabine
- Scherer, Stephen W
- Howe, Jennifer
- Fazeli, Walid
- Howell, Katherine B
- Leventer, Richard
- Walsh, Sonja
- Gerard, Marion
- Gerard, Bénédicte
- Matricardi, Sara
- Bonardi, Claudia M
- Sartori, Stefano
- Berger, Andrea
- Hoffman-Zacharska, Dorota
- Vøllo, Arve
- Motazacker, M Mahdi
- Lakeman, Phillis
- Betzler, Cornelia
- Altuzarra, Cecilia
- Caume, Roseline
- Roubertie, Agathe
- Guerrini, Renzo
- Bilan, Frederic
- Tibussek, Daniel
- Koch-Hogrebe, Margarete
- Perry, M Scott
- Dadali, Elena
- Sharkov, Artem
- Mishina, Irina
- Abramov, Mikhail
- Kanivets, Ilya
- Korostelev, Sergey
- Kutsev, Sergey
- Wain, Karen E
- Eisenhauer, Nancy
- Savatt, Juliann M
- Bassan, Haim
- Borovikov, Artem
- Nassogne, Marie Cecile
- Schoonjans, An Sofie
- Buzatu, Marga
- Jansen, Anna
- Scalais, Emmanuel
- Tan, Wen Hann
- Olson, Heather E
- Loddenkemper, Tobias
- Poduri, Annapurna
- Helbig, Katherine L
- Helbig, Ingo
- Goldberg, Ethan M
- Borggraefe, Ingo
- Lal, Dennis
- Lederer, Damien
- Rubboli, Guido
- Heyne, Henrike O
- Lesca, Gaetan
- Hedrich, Ulrike B S
- Benda, Jan
- Gardella, Elena
- Lerche, Holger
2022
Link zum Volltext
Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107976, Article 107976
2024
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European journal of human genetics : EJHG, 2019-12, Vol.27 (12), p.1791-1799
2019
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