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Genetics in medicine, 2019-09, Vol.21 (9), p.2015-2024
- Arnaud, Pauline
- Hanna, Nadine
- Benarroch, Louise
- Aubart, Mélodie
- Bal, Laurence
- Bouvagnet, Patrice
- Busa, Tiffany
- Dulac, Yves
- Dupuis-Girod, Sophie
- Edouard, Thomas
- Faivre, Laurence
- Gouya, Laurent
- Lacombe, Didier
- Langeois, Maud
- Leheup, Bruno
- Milleron, Olivier
- Naudion, Sophie
- Odent, Sylvie
- Tchitchinadze, Maria
- Ropers, Jacques
- Jondeau, Guillaume
- Boileau, Catherine
2019
Link zum Volltext
European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.291-297
- Forde, Claire
- Burkitt-Wright, Emma
- Turnpenny, Peter D
- Haan, Eric
- Ealing, John
- Mansour, Sahar
- Holder, Muriel
- Lahiri, Nayana
- Dixit, Abhijit
- Procter, Annie
- Pacot, Laurence
- Vidaud, Dominique
- Capri, Yline
- Gerard, Marion
- Dollfus, Hélène
- Schaefer, Elise
- Quelin, Chloé
- Sigaudy, Sabine
- Busa, Tiffany
- Vera, Gabriella
- Damaj, Lena
- Messiaen, Ludwine
- Stevenson, David A
- Davies, Peter
- Palmer-Smith, Sheila
- Callaway, Alison
- Wolkenstein, Pierre
- Pasmant, Eric
- Upadhyaya, Meena
2022
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American journal of human genetics, 2014-12, Vol.95 (6), p.736-743
- Barbier, Mathieu
- Gross, Marie-Sylvie
- Aubart, Mélodie
- Hanna, Nadine
- Kessler, Ketty
- Guo, Dong-Chuan
- Tosolini, Laurent
- Ho-Tin-Noe, Benoit
- Regalado, Ellen
- Varret, Mathilde
- Abifadel, Marianne
- Milleron, Olivier
- Odent, Sylvie
- Dupuis-Girod, Sophie
- Faivre, Laurence
- Edouard, Thomas
- Dulac, Yves
- Busa, Tiffany
- Gouya, Laurent
- Milewicz, Dianna M.
- Jondeau, Guillaume
- Boileau, Catherine
2014
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European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.567-576
- Denommé-Pichon, Anne-Sophie
- Vitobello, Antonio
- Olaso, Robert
- Ziegler, Alban
- Jeanne, Médéric
- Tran Mau-Them, Frédéric
- Couturier, Victor
- Racine, Caroline
- Isidor, Bertrand
- Poë, Charlotte
- Jouan, Thibaud
- Boland, Anne
- Fin, Bertrand
- Bacq-Daian, Delphine
- Besse, Céline
- Garde, Aurore
- Prost, Adeline
- Garret, Philippine
- Tisserant, Émilie
- Delanne, Julian
- Nambot, Sophie
- Juven, Aurélien
- Gorce, Magali
- Nizon, Mathilde
- Vincent, Marie
- Moutton, Sébastien
- Fradin, Mélanie
- Lavillaureix, Alinoë
- Rollier, Paul
- Capri, Yline
- Van-Gils, Julien
- Busa, Tiffany
- Sigaudy, Sabine
- Pasquier, Laurent
- Barth, Magalie
- Bruel, Ange-Line
- Flamant, Cyril
- Prouteau, Clément
- Bonneau, Dominique
- Toutain, Annick
- Chantegret, Corinne
- Callier, Patrick
- Philippe, Christophe
- Duffourd, Yannis
- Deleuze, Jean-François
- Sorlin, Arthur
- Faivre, Laurence
- Thauvin-Robinet, Christel
2022
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Npj genomic medicine, 2023-07, Vol.8 (1), p.17-17, Article 17
- Zhao, Yingjie
- Wang, Yujue
- Shi, Lijie
- McDonald-McGinn, Donna M
- Crowley, T Blaine
- McGinn, Daniel E
- Tran, Oanh T
- Miller, Daniella
- Lin, Jhih-Rong
- Zackai, Elaine
- Johnston, H Richard
- Chow, Eva W C
- Vorstman, Jacob A S
- Vingerhoets, Claudia
- van Amelsvoort, Therese
- Gothelf, Doron
- Swillen, Ann
- Breckpot, Jeroen
- Vermeesch, Joris R
- Eliez, Stephan
- Schneider, Maude
- van den Bree, Marianne B M
- Owen, Michael J
- Kates, Wendy R
- Repetto, Gabriela M
- Shashi, Vandana
- Schoch, Kelly
- Bearden, Carrie E
- Digilio, M Cristina
- Unolt, Marta
- Putotto, Carolina
- Marino, Bruno
- Pontillo, Maria
- Armando, Marco
- Vicari, Stefano
- Angkustsiri, Kathleen
- Campbell, Linda
- Busa, Tiffany
- Heine-Suñer, Damian
- Murphy, Kieran C
- Murphy, Declan
- García-Miñaúr, Sixto
- Fernández, Luis
- Zhang, Zhengdong D
- Goldmuntz, Elizabeth
- Gur, Raquel E
- Emanuel, Beverly S
- Zheng, Deyou
- Marshall, Christian R
- Bassett, Anne S
- Wang, Tao
- Morrow, Bernice E
2023
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
2022
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Human mutation, 2018-12, Vol.39 (12), p.2110-2112
- Vuillaume, Marie-Laure
- Moizard, Marie-Pierre
- Rossignol, Sylvie
- Cottereau, Edouard
- Vonwill, Sandrine
- Alessandri, Jean-Luc
- Busa, Tiffany
- Colin, Estelle
- Gérard, Marion
- Giuliano, Fabienne
- Lambert, Laetitia
- Lefevre, Mathilde
- Kotecha, Udhaya
- Nampoothiri, Sheela
- Netchine, Irène
- Raynaud, Martine
- Brioude, Frédéric
- Toutain, Annick
2018
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Journal of clinical medicine, 2023-06, Vol.12 (13), p.4378
2023
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European journal of medical genetics, 2021-01, Vol.64 (1), p.104105-104105, Article 104105
2021
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Journal of clinical medicine, 2022-11, Vol.11 (21), p.6344
2022
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Genetics in medicine, 2019-07, Vol.21 (7), p.1-5
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Héron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C.
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- van den Born, Myrthe
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
2019
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Neurology, 2016-06, Vol.86 (23), p.2171
- Lemke, Johannes R
- Geider, Kirsten
- Helbig, Katherine L
- Heyne, Henrike O
- Schütz, Hannah
- Hentschel, Julia
- Courage, Carolina
- Depienne, Christel
- Nava, Caroline
- Heron, Delphine
- Møller, Rikke S
- Hjalgrim, Helle
- Lal, Dennis
- Neubauer, Bernd A
- Nürnberg, Peter
- Thiele, Holger
- Kurlemann, Gerhard
- Arnold, Georgianne L
- Bhambhani, Vikas
- Bartholdi, Deborah
- Pedurupillay, Christeen Ramane J
- Misceo, Doriana
- Frengen, Eirik
- Strømme, Petter
- Dlugos, Dennis J
- Doherty, Emily S
- Bijlsma, Emilia K
- Ruivenkamp, Claudia A
- Hoffer, Mariette J V
- Goldstein, Amy
- Rajan, Deepa S
- Narayanan, Vinodh
- Ramsey, Keri
- Belnap, Newell
- Schrauwen, Isabelle
- Richholt, Ryan
- Koeleman, Bobby P C
- Sá, Joaquim
- Mendonça, Carla
- de Kovel, Carolien G F
- Weckhuysen, Sarah
- Hardies, Katia
- De Jonghe, Peter
- De Meirleir, Linda
- Milh, Mathieu
- Badens, Catherine
- Lebrun, Marine
- Busa, Tiffany
- Francannet, Christine
- Piton, Amélie
- Riesch, Erik
- Biskup, Saskia
- Vogt, Heinrich
- Dorn, Thomas
- Helbig, Ingo
- Michaud, Jacques L
- Laube, Bodo
- Syrbe, Steffen
2016
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Epilepsia (Copenhagen), 2020-03, Vol.61 (3), p.387-399
- Brunklaus, Andreas
- Du, Juanjiangmeng
- Steckler, Felix
- Ghanty, Ismael I.
- Johannesen, Katrine M.
- Fenger, Christina Dühring
- Schorge, Stephanie
- Baez‐Nieto, David
- Wang, Hao‐Ran
- Allen, Andrew
- Pan, Jen Q.
- Lerche, Holger
- Heyne, Henrike
- Symonds, Joseph D.
- Zuberi, Sameer M.
- Sanders, Stephan
- Sheidley, Beth R.
- Craiu, Dana
- Olson, Heather E.
- Weckhuysen, Sarah
- DeJonge, Peter
- Helbig, Ingo
- Van Esch, Hilde
- Busa, Tiffany
- Milh, Matthieu
- Isidor, Bertrand
- Depienne, Christel
- Poduri, Annapurna
- Campbell, Arthur J.
- Dimidschstein, Jordane
- Møller, Rikke S.
- Lal, Dennis
2020
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American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2365-2373
2019
Link zum Volltext
American journal of human genetics, 2020-01, Vol.106 (1), p.26-40
- Zhao, Yingjie
- Diacou, Alexander
- Johnston, H. Richard
- Musfee, Fadi I.
- McDonald-McGinn, Donna M.
- McGinn, Daniel
- Crowley, T. Blaine
- Repetto, Gabriela M.
- Swillen, Ann
- Breckpot, Jeroen
- Vermeesch, Joris R.
- Kates, Wendy R.
- Digilio, M. Cristina
- Unolt, Marta
- Marino, Bruno
- Pontillo, Maria
- Armando, Marco
- Di Fabio, Fabio
- Vicari, Stefano
- van den Bree, Marianne
- Moss, Hayley
- Owen, Michael J.
- Murphy, Kieran C.
- Murphy, Clodagh M.
- Murphy, Declan
- Schoch, Kelly
- Shashi, Vandana
- Tassone, Flora
- Simon, Tony J.
- Shprintzen, Robert J.
- Campbell, Linda
- Philip, Nicole
- Heine-Suñer, Damian
- García-Miñaúr, Sixto
- Fernández, Luis
- Antonarakis, Stylianos E.
- Biondi, Massimo
- Boot, Erik
- Breetvelt, Elemi
- Busa, Tiffany
- Butcher, Nancy
- Buzzanca, Antonino
- Carmel, Miri
- Cleynen, Isabelle
- Cutler, David
- Dallapiccola, Bruno
- de la Fuente Sanches, María Angeles
- Epstein, Michael P.
- Evers, Rens
- Fernandez, Luis
- Fritsch, Rosemarie
- Algas, Fernando García
- Guo, Tingwei
- Gur, Raquel
- Hestand, Matthew S.
- Heung, Tracy
- Hooper, Stephen
- Jin, Andrea
- Kushan-Wells, Leila
- Laorden-Nieto, Alejandra Teresa
- Lattanzi, Guido
- Marshall, Christian
- McCabe, Kathryn
- Michaelovsky, Elena
- Ornstein, Claudia
- Silversides, Candice
- Tran, Oanh
- van Duin, Esther D.A.
- Vergaelen, Elfi
- Warren, Steve T.
- Weinberger, Ronnie
- Weizman, Abraham
- Zhang, Zhengdong
- Zwick, Michael
- Bearden, Carrie E.
- Vingerhoets, Claudia
- van Amelsvoort, Therese
- Eliez, Stephan
- Schneider, Maude
- Vorstman, Jacob A.S.
- Gothelf, Doron
- Zackai, Elaine
- Agopian, A.J.
- Gur, Raquel E.
- Bassett, Anne S.
- Emanuel, Beverly S.
- Goldmuntz, Elizabeth
- Mitchell, Laura E.
- Wang, Tao
- Morrow, Bernice E.
2020
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The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2436-2446
- Geoffron, Sophie
- Abi Habib, Walid
- Chantot-Bastaraud, Sandra
- Dubern, Béatrice
- Steunou, Virginie
- Azzi, Salah
- Afenjar, Alexandra
- Busa, Tiffanny
- Pinheiro Canton, Ana
- Chalouhi, Christel
- Dufourg, Marie-Noëlle
- Esteva, Blandine
- Fradin, Mélanie
- Geneviève, David
- Heide, Solveig
- Isidor, Bertrand
- Linglart, Agnès
- Morice Picard, Fanny
- Naud-Saudreau, Catherine
- Oliver Petit, Isabelle
- Philip, Nicole
- Pienkowski, Catherine
- Rio, Marlène
- Rossignol, Sylvie
- Tauber, Maithé
- Thevenon, Julien
- Vu-Hong, Thuy-Ai
- Harbison, Madeleine D
- Salem, Jennifer
- Brioude, Frédéric
- Netchine, Irène
- Giabicani, Eloïse
2018
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American Journal of Psychiatry, 2017-11, Vol.174 (11), p.1054-1063
- Bassett, Anne S
- Lowther, Chelsea
- Merico, Daniele
- Costain, Gregory
- Chow, Eva W. C
- van Amelsvoort, Therese
- McDonald-McGinn, Donna
- Gur, Raquel E
- Swillen, Ann
- Van den Bree, Marianne
- Murphy, Clodagh
- Murphy, Kieran
- Gothelf, Doron
- Bearden, Carrie E
- Eliez, Stephan
- Kates, Wendy
- Philip, Nicole
- Sashi, Vandana
- Campbell, Linda
- Vorstman, Jacob
- Cubells, Joseph
- Repetto, Gabriela M
- Simon, Tony
- Boot, Erik
- Heung, Tracy
- Evers, Rens
- Vingerhoets, Claudia
- van Duin, Esther
- Zackai, Elaine
- Vergaelen, Elfi
- Devriendt, Koen
- Vermeesch, Joris R
- Owen, Michael
- Michaelovosky, Elena
- Kushan, Leila
- Schneider, Maude
- Fremont, Wanda
- Busa, Tiffany
- Hooper, Stephen
- McCabe, Kathryn
- Duijff, Sasja
- Isaev, Karin
- Pellecchia, Giovanna
- Wei, John
- Gazzellone, Matthew J
- Scherer, Stephen W
- Emanuel, Beverly S
- Guo, Tingwei
- Morrow, Bernice E
- Marshall, Christian R
2017
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Annals of vascular surgery, 2022-08, Vol.84, p.76-77
2022
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American journal of obstetrics and gynecology, 2024-03, Vol.230 (3), p.368.e1-368.e12
- Freud, Lindsay R.
- Galloway, Stephanie
- Crowley, T. Blaine
- Moldenhauer, Julie
- Swillen, Ann
- Breckpot, Jeroen
- Borrell, Antoni
- Vora, Neeta L.
- Cuneo, Bettina
- Hoffman, Hilary
- Gilbert, Lisa
- Nowakowska, Beata
- Geremek, Maciej
- Kutkowska-Kaźmierczak, Anna
- Vermeesch, Joris R.
- Devriendt, Koen
- Busa, Tiffany
- Sigaudy, Sabine
- Vigneswaran, Trisha
- Simpson, John M.
- Dungan, Jeffrey
- Gotteiner, Nina
- Gloning, Karl-Philipp
- Digilio, Maria Cristina
- Unolt, Marta
- Putotto, Carolina
- Marino, Bruno
- Repetto, Gabriela
- Fadic, Magdalena
- Garcia-Minaur, Sixto
- Achón Buil, Ana
- Thomas, Mary Ann
- Fruitman, Deborah
- Beecroft, Taylor
- Hui, Pui Wah
- Oskarsdottir, Solveig
- Bradshaw, Rachael
- Criebaum, Amanda
- Norton, Mary E.
- Lee, Tiffany
- Geiger, Miwa
- Dunnington, Leslie
- Isaac, Jacqueline
- Wilkins-Haug, Louise
- Hunter, Lindsey
- Izzi, Claudia
- Toscano, Marika
- Ghi, Tullio
- McGlynn, Julie
- Romana Grati, Francesca
- Emanuel, Beverly S.
- Gaiser, Kimberly
- Gaynor, J. William
- Goldmuntz, Elizabeth
- McGinn, Daniel E.
- Schindewolf, Erica
- Tran, Oanh
- Zackai, Elaine H.
- Yan, Qi
- Bassett, Anne S.
- Wapner, Ronald
- McDonald-McGinn, Donna M.
2024
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American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3114-3117
2017
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Biological psychiatry (1969), 2018-08, Vol.84 (4), p.253-264
- Martin-Brevet, Sandra
- Nielsen, Jared A.
- Maillard, Anne M.
- Richetin, Sonia
- Jønch, Aia E.
- Zürcher, Nicole R.
- Addor, Marie-Claude
- Andrieux, Joris
- Arveiler, Benoît
- Baujat, Geneviève
- Sloan-Béna, Frédérique
- Belfiore, Marco
- Bouquillon, Sonia
- Brusco, Alfredo
- Busa, Tiffany
- Cordier, Marie-Pierre
- David, Albert
- Edery, Patrick
- Fagerberg, Christina
- Forzano, Francesca
- Genevieve, David
- Gérard, Marion
- Giachino, Daniela
- Guichet, Agnès
- Guillin, Olivier
- Jacquette, Aurélia
- Jaillard, Sylvie
- Le Caignec, Cédric
- Lemaître, Marie-Pierre
- Lespinasse, James
- Pilekær Sørensen, Kristina
- Pinson, Lucile
- Prieur, Fabienne
- Rooryck-Thambo, Caroline
- Till, Marianne
- Van Haelst, Mieke
- Van Maldergem, Lionel
- Ackerman, Sean
- Anwar, Ayesha
- Bowe, Alexandra
- Berg, Jessica
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- Blaskey, Lisa
- Burko, Jordan
- Chang, Yishin
- Cheong, Maxwell
- Chudnovskaya, Darina
- Cornew, Lauren
- Dale, Corby
- Dempsey, Allison G.
- Earl, Rachel
- Edgar, James
- Fischbach, Gerald D.
- Fregeau, Brieana
- Gaetz, Leah
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- Greenup, Marion
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- Khan, Sarah Y.
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- Laakman, Anna L.
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- Campe, Katherine Loftus
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- McNally Keehn, Rebecca
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- Nagarajan, Srikantan S.
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- Packer, Alan
- Paul, Brianna M.
- Poduri, Annapurna
- Pojman, Nicholas J.
- Porche, Ken
- Proud, Monica B.
- Ramocki, Melissa B.
- Reilly, Beau
- Roberts, Timothy P.L.
- Gallagher, Anne Snow
- Thieu, Tony
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- Ward, Tracey
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- Spiro, John E.
- Kherif, Ferath
- Hadjikhani, Nouchine
- Reymond, Alexandre
- Buckner, Randy L.
2018
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Clinical genetics, 2022-02, Vol.101 (2), p.208-213
2022
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Genetics in medicine, 2018-10, Vol.20 (10), p.1236-1245
- Beyens, Aude
- Albuisson, Juliette
- Boel, Annekatrien
- Al-Essa, Mazen
- Al-Manea, Waheed
- Bonnet, Damien
- Bostan, Ozlem
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- Busa, Tiffany
- Canham, Nathalie
- Cil, Ergun
- Coucke, Paul J
- Cousin, Margot A
- Dasouki, Majed
- De Backer, Julie
- De Paepe, Anne
- De Schepper, Sofie
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- Deyle, David R
- Dietz, Harry
- Dupuis-Girod, Sophie
- Fontenot, Eudice
- Fischer-Zirnsak, Björn
- Gezdirici, Alper
- Ghoumid, Jamal
- Giuliano, Fabienne
- Diéz, Neus Baena
- Haider, Mohammed Z
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- Michael, Helen
- Moceri, Pamela
- Mohammed, Shehla
- Muiño-Mosquera, Laura
- Nampoothiri, Sheela
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- Temel, Sehime
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- Vanhomwegen, Marine
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- Warner, David
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- Callewaert, Bert
2018
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The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-16
- Li, Dong
- Battig, Mark R
- Bosch, Daniëlle Gm
- van Haaften, Gijs
- Granger, Leslie
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- Aznar-Laín, Gemma
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- Bendova, Sarka
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- Kremlikova Pourova, Radka
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- Hou, Cuiping
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- Li, Megan
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- Faghfoury, Hanna
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- Dentici, Maria Lisa
- Wright, Meredith
- Lai, Khanh
- Scala, Marcello
- Striano, Pasquale
- Iacomino, Michele
- Zara, Federico
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- Nowak, Catherine
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- Hoyer, Juliane
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- Maas, Saskia M
- Martinez-Agosto, Julian A
- Rabani, Ahna M
- Falk, Marni J
- Ruggiero, Sarah M
- Helbig, Ingo
- Møller, Rikke S
- Krawitz, Peter M
- Ganapathi, Mythily
- Gelb, Bruce D
- Wilson, Ashley
- Jizi, Khadijé
- Quelin, Chloé
- Chick, Erika
- Uchiyama, Yuri
- Matsumoto, Naomichi
- Taira, Ryoji
- Tashiro, Katsuya
- Wollnik, Bernd
- Wagner, Michael
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- Fernandez Garcia Moya, Luis
- Chad, Lauren
- Li, Chumei
- Sanchez-Valle, Amarilis
- Sulem, Patrick
- Gorokhova, Svetlana
- Busa, Tiffany
- Rio, Marlène
- Hadj Habdallah, Hamza
- Lesieur-Sebellin, Marion
- Amiel, Jeanne
- Pingault, Véronique
- Fatus-Fauconnier, Clemence
- Friend, Kathryn
- Halligan, Rebecca K
- Corbett, Mark
- Barnett, Christopher
- Gecz, Jozef
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- Pfundt, Rolph
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- Brooks, Alice S
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- Song, Yuanquan
- Hakonarson, Hakon
2024
Link zum Volltext
American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.417-430
- Legendre, Marine
- Abadie, Véronique
- Attié‐Bitach, Tania
- Philip, Nicole
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- Bonneau, Dominique
- Colin, Estelle
- Dollfus, Hélène
- Lacombe, Didier
- Toutain, Annick
- Blesson, Sophie
- Julia, Sophie
- Martin‐Coignard, Dominique
- Geneviève, David
- Leheup, Bruno
- Odent, Sylvie
- Jouk, Pierre‐Simon
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- Faivre, Laurence
- Vincent‐Delorme, Catherine
- Francannet, Christine
- Naudion, Sophie
- Mathieu‐Dramard, Michèle
- Delrue, Marie‐Ange
- Goldenberg, Alice
- Héron, Delphine
- Parent, Philippe
- Touraine, Renaud
- Layet, Valérie
- Sanlaville, Damien
- Quélin, Chloé
- Moutton, Sébastien
- Fradin, Mélanie
- Jacquette, Aurélia
- Sigaudy, Sabine
- Pinson, Lucile
- Sarda, Pierre
- Guerrot, Anne‐Marie
- Rossi, Massimiliano
- Masurel‐Paulet, Alice
- El Chehadeh, Salima
- Piguel, Xavier
- Rodriguez‐Ballesteros, Montserrat
- Ragot, Stéphanie
- Lyonnet, Stanislas
- Bilan, Frédéric
- Gilbert‐Dussardier, Brigitte
2017
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