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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...Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100942, Article 100942
2022
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The Journal of pediatrics, 2006-07, Vol.149 (1), p.89-97
2006
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Laboratory investigation, 2006-12, Vol.86 (12), p.1208-1220
2006
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European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1240-1247
- SCHAAF, Christian P
- BOONE, Philip M
- TARTAGLIA, Nicole R
- EVANS, Patricia
- CAMPBELL, William M
- TSAI, Anne Chun-Hui
- PARSLEY, Lea
- GRAYSON, Stephanie W
- SCHEUERLE, Angela
- LUZZI, Carol D
- THOMAS, Sandra K
- ENG, Patricia A
- SAMPATH, Srirangan
- KANG, Sung-Hae L
- PATEL, Ankita
- STANKIEWICZ, Pawel
- CHEUNG, Sau W
- WILLIAMS, Charles
- BADER, Patricia I
- MUELLER, Jennifer M
- SHCHELOCHKOV, Oleg A
- BROWN, Chester W
- CRAWFORD, Heather P
- PHALEN, James A
2012
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American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1463-1467
2009
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2500-2504
2017
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Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100859-100859, Article 100859
2022
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American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1833-1852
- Curry, Cynthia J.
- Rosenfeld, Jill A.
- Grant, Erica
- Gripp, Karen W.
- Anderson, Carol
- Aylsworth, Arthur S.
- Saad, Taha Ben
- Chizhikov, Victor V.
- Dybose, Giedre
- Fagerberg, Christina
- Falco, Michelle
- Fels, Christina
- Fichera, Marco
- Graakjaer, Jesper
- Greco, Donatella
- Hair, Jennifer
- Hopkins, Elizabeth
- Huggins, Marlene
- Ladda, Roger
- Li, Chumei
- Moeschler, John
- Nowaczyk, Malgorzata J.M.
- Ozmore, Jillian R.
- Reitano, Santina
- Romano, Corrado
- Roos, Laura
- Schnur, Rhonda E.
- Sell, Susan
- Suwannarat, Pim
- Svaneby, Dea
- Szybowska, Marta
- Tarnopolsky, Mark
- Tervo, Raymond
- Tsai, Anne Chun-Hui
- Tucker, Megan
- Vallee, Stephanie
- Wheeler, Ferrin C
- Zand, Dina J.
- Barkovich, A. James
- Aradhya, Swaroop
- Shaffer, Lisa G.
- Dobyns, William B.
2013
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American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2766-2770
2011
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HGG advances, 2022-07, Vol.3 (3), p.100102-100102, Article 100102
- Sobering, Andrew K.
- Bryant, Laura M.
- Li, Dong
- McGaughran, Julie
- Maystadt, Isabelle
- Moortgat, Stephanie
- Graham, John M.
- van Haeringen, Arie
- Ruivenkamp, Claudia
- Cuperus, Roos
- Vogt, Julie
- Morton, Jenny
- Brasch-Andersen, Charlotte
- Steenhof, Maria
- Hansen, Lars Kjærsgaard
- Adler, Élodie
- Lyonnet, Stanislas
- Pingault, Veronique
- Sandrine, Marlin
- Ziegler, Alban
- Donald, Tyhiesia
- Nelson, Beverly
- Holt, Brandon
- Petryna, Oleksandra
- Firth, Helen
- McWalter, Kirsty
- Zyskind, Jacob
- Telegrafi, Aida
- Juusola, Jane
- Person, Richard
- Bamshad, Michael J.
- Earl, Dawn
- Tsai, Anne Chun-Hui
- Yearwood, Katherine R.
- Marco, Elysa
- Nowak, Catherine
- Douglas, Jessica
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2022
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HGG advances, 2023-01, Vol.4 (1), p.100168, Article 100168
- Sobering, Andrew K.
- Bryant, Laura M.
- Li, Dong
- McGaughran, Julie
- Maystadt, Isabelle
- Moortgat, Stephanie
- Graham, John M.
- van Haeringen, Arie
- Ruivenkamp, Claudia
- Cuperus, Roos
- Vogt, Julie
- Morton, Jenny
- Brasch-Andersen, Charlotte
- Steenhof, Maria
- Hansen, Lars Kjærsgaard
- Adler, Élodie
- Lyonnet, Stanislas
- Pingault, Veronique
- Sandrine, Marlin
- Ziegler, Alban
- Donald, Tyhiesia
- Nelson, Beverly
- Holt, Brandon
- Petryna, Oleksandra
- Firth, Helen
- McWalter, Kirsty
- Zyskind, Jacob
- Telegrafi, Aida
- Juusola, Jane
- Person, Richard
- Bamshad, Michael J.
- Earl, Dawn
- Chun-Hui Tsai, Anne
- Yearwood, Katherine R.
- Marco, Elysa
- Nowak, Catherine
- Douglas, Jessica
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2023
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Genetics in medicine, 2020-06, Vol.22 (6), p.986-1004
2020
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American journal of human genetics, 2019-02, Vol.104 (2), p.213-228
- Karolak, Justyna A.
- Vincent, Marie
- Deutsch, Gail
- Gambin, Tomasz
- Cogné, Benjamin
- Pichon, Olivier
- Vetrini, Francesco
- Mefford, Heather C.
- Dines, Jennifer N.
- Golden-Grant, Katie
- Dipple, Katrina
- Freed, Amanda S.
- Leppig, Kathleen A.
- Dishop, Megan
- Mowat, David
- Bennetts, Bruce
- Gifford, Andrew J.
- Weber, Martin A.
- Lee, Anna F.
- Boerkoel, Cornelius F.
- Bartell, Tina M.
- Ward-Melver, Catherine
- Besnard, Thomas
- Petit, Florence
- Bache, Iben
- Tümer, Zeynep
- Denis-Musquer, Marie
- Joubert, Madeleine
- Martinovic, Jelena
- Bénéteau, Claire
- Molin, Arnaud
- Carles, Dominique
- André, Gwenaelle
- Bieth, Eric
- Chassaing, Nicolas
- Devisme, Louise
- Chalabreysse, Lara
- Pasquier, Laurent
- Secq, Véronique
- Don, Massimiliano
- Orsaria, Maria
- Missirian, Chantal
- Mortreux, Jérémie
- Sanlaville, Damien
- Pons, Linda
- Küry, Sébastien
- Bézieau, Stéphane
- Liet, Jean-Michel
- Joram, Nicolas
- Bihouée, Tiphaine
- Scott, Daryl A.
- Brown, Chester W.
- Scaglia, Fernando
- Tsai, Anne Chun-Hui
- Grange, Dorothy K.
- Phillips, John A.
- Pfotenhauer, Jean P.
- Jhangiani, Shalini N.
- Gonzaga-Jauregui, Claudia G.
- Chung, Wendy K.
- Schauer, Galen M.
- Lipson, Mark H.
- Mercer, Catherine L.
- van Haeringen, Arie
- Liu, Qian
- Popek, Edwina
- Coban Akdemir, Zeynep H.
- Lupski, James R.
- Szafranski, Przemyslaw
- Isidor, Bertrand
- Le Caignec, Cedric
- Stankiewicz, Paweł
2019
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American journal of human genetics, 2019-09, Vol.105 (3), p.631-639
- Fischer-Zirnsak, Björn
- Segebrecht, Lara
- Schubach, Max
- Charles, Perrine
- Alderman, Emily
- Brown, Kathleen
- Cadieux-Dion, Maxime
- Cartwright, Tracy
- Chen, Yanmin
- Costin, Carrie
- Fehr, Sarah
- Fitzgerald, Keely M.
- Fleming, Emily
- Foss, Kimberly
- Ha, Thoa
- Hildebrand, Gabriele
- Horn, Denise
- Liu, Shuxi
- Marco, Elysa J.
- McDonald, Marie
- McWalter, Kirsty
- Race, Simone
- Rush, Eric T.
- Si, Yue
- Saunders, Carol
- Slavotinek, Anne
- Stockler-Ipsiroglu, Sylvia
- Telegrafi, Aida
- Thiffault, Isabelle
- Torti, Erin
- Tsai, Anne Chun-hui
- Wang, Xin
- Zafar, Muhammad
- Keren, Boris
- Kornak, Uwe
- Boerkoel, Cornelius F.
- Mirzaa, Ghayda
- Ehmke, Nadja
2019
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American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1590-1591
2009
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American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2430-2434
2007
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Nature genetics, 2012-06, Vol.44 (6), p.639-641
- KOOLEN, David A
- KRAMER, Jamie M
- SAU WAI CHEUNG
- GILISSEN, Christian
- VERWIEL, Eugene T. P
- MARTENS, Sarah
- FEUTH, Ton
- BONGERS, Ernie M. H. F
- DE VRIES, Petra
- SCHEFFER, Hans
- VISSERS, Lisenka E. L. M
- DE BROUWER, Arjan P. M
- NEVELING, Kornelia
- BRUNNER, Han G
- VELTMAN, Joris A
- SCHENCKL, Annette
- YNTEMA, Helgerg
- DE VRIES, Bert B. A
- NILLESEN, Willy M
- MOORE-BARTON, Heather L
- ELMSLIE, Frances V
- TOUTAIN, Annick
- AMIEL, Jeanne
- MALAN, Valérie
- TSAI, Anne Chun-Hui
2012
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American journal of human genetics, 2020-11, Vol.107 (5), p.963-976
- Guo, Hui
- Zhang, Qiumeng
- Dai, Rujia
- Yu, Bin
- Hoekzema, Kendra
- Tan, Jieqiong
- Tan, Senwei
- Jia, Xiangbin
- Chung, Wendy K
- Hernan, Rebecca
- Alkuraya, Fowzan S
- Alsulaiman, Ahood
- Al-Muhaizea, Mohammad A
- Lesca, Gaetan
- Pons, Linda
- Labalme, Audrey
- Laux, Linda
- Bryant, Emily
- Brown, Natasha J
- Savva, Elena
- Ayres, Samantha
- Eratne, Dhamidhu
- Peeters, Hilde
- Bilan, Frédéric
- Letienne-Cejudo, Lucile
- Gilbert-Dussardier, Brigitte
- Ruiz-Arana, Inge-Lore
- Merlini, Jenny Meylan
- Boizot, Alexia
- Bartoloni, Lucia
- Santoni, Federico
- Karlowicz, Danielle
- McDonald, Marie
- Wu, Huidan
- Hu, Zhengmao
- Chen, Guodong
- Ou, Jianjun
- Brasch-Andersen, Charlotte
- Fagerberg, Christina R
- Dreyer, Inken
- Chun-Hui Tsai, Anne
- Slegesky, Valerie
- McGee, Rose B
- Daniels, Brina
- Sellars, Elizabeth A
- Carpenter, Lori A
- Schaefer, Bradley
- Sacoto, Maria J Guillen
- Begtrup, Amber
- Schnur, Rhonda E
- Punj, Sumit
- Wentzensen, Ingrid M
- Rhodes, Lindsay
- Pan, Qian
- Bernier, Raphael A
- Chen, Chao
- Eichler, Evan E
- Xia, Kun
2020
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Urolithiasis, 2023-08, Vol.51 (1), p.101-101, Article 101
2023
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American journal of human genetics, 2014-11, Vol.95 (5), p.579-583
- Lalani, Seema R.
- Zhang, Jing
- Schaaf, Christian P.
- Brown, Chester W.
- Magoulas, Pilar
- Tsai, Anne Chun-Hui
- El-Gharbawy, Areeg
- Wierenga, Klaas J.
- Bartholomew, Dennis
- Fong, Chin-To
- Barbaro-Dieber, Tina
- Kukolich, Mary K.
- Burrage, Lindsay C.
- Austin, Elise
- Keller, Kory
- Pastore, Matthew
- Fernandez, Fabio
- Lotze, Timothy
- Wilfong, Angus
- Purcarin, Gabriela
- Zhu, Wenmiao
- Craigen, William J.
- McGuire, Marianne
- Jain, Mahim
- Cooney, Erin
- Azamian, Mahshid
- Bainbridge, Matthew N.
- Muzny, Donna M.
- Boerwinkle, Eric
- Person, Richard E.
- Niu, Zhiyv
- Eng, Christine M.
- Lupski, James R.
- Gibbs, Richard A.
- Beaudet, Arthur L.
- Yang, Yaping
- Wang, Meng C.
- Xia, Fan
2014
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Pediatrics (Evanston), 2016-01, Vol.137 (1)
2016
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European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.547-554
- Rosenfeld, Jill A
- Stephens, Lindsey E
- Coppinger, Justine
- Ballif, Blake C
- Hoo, Joe J
- French, Beatrice N
- Banks, Valerie C
- Smith, Wendy E
- Manchester, David
- Tsai, Anne Chun-Hui
- Merrion, Katrina
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Schultz, Roger
- Torchia, Beth
- Sahoo, Trilochan
- Bejjani, Bassem
- Weaver, David D
- Shaffer, Lisa G
2011
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American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2365-2371
2010
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Cancer genetics, 2021-06, Vol.254-255, p.18-24
2021
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American journal of medical genetics. Part A, 2008-06, Vol.146A (11), p.1493-1496
2008
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