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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...Cell, 2022-08, Vol.185 (16), p.3041-3055.e25
- Collins, Ryan L.
- Glessner, Joseph T.
- Porcu, Eleonora
- Lepamets, Maarja
- Brandon, Rhonda
- Lauricella, Christopher
- Han, Lide
- Morley, Theodore
- Niestroj, Lisa-Marie
- Ulirsch, Jacob
- Everett, Selin
- Howrigan, Daniel P.
- Boone, Philip M.
- Fu, Jack
- Karczewski, Konrad J.
- Kellaris, Georgios
- Lowther, Chelsea
- Lucente, Diane
- Mohajeri, Kiana
- Nõukas, Margit
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- Samocha, Kaitlin E.
- Trinh, Mi
- Ullah, Farid
- Võsa, Urmo
- Metspalu, Andres
- Mägi, Reedik
- Nelis, Mari
- Milani, Lili
- Esko, Tõnu
- Hurles, Matthew E.
- Aradhya, Swaroop
- Davis, Erica E.
- Finucane, Hilary
- Gusella, James F.
- Janze, Aura
- Katsanis, Nicholas
- Matyakhina, Ludmila
- Neale, Benjamin M.
- Sanders, David
- Warren, Stephanie
- Hodge, Jennelle C.
- Lal, Dennis
- Ruderfer, Douglas M.
- Meck, Jeanne
- Reymond, Alexandre
- Kutalik, Zoltán
- Hakonarson, Hakon
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- Brand, Harrison
- Talkowski, Michael E.
2022
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Pediatrics (Evanston), 2016-08, Vol.138 (2)
2016
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American journal of respiratory and critical care medicine, 2019-06, Vol.199 (11), p.1344-1357
2019
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Human molecular genetics, 2014-12, Vol.23 (25), p.6797-6806
- Zernant, Jana
- Xie, Yajing Angela
- Ayuso, Carmen
- Riveiro-Alvarez, Rosa
- Lopez-Martinez, Miguel-Angel
- Simonelli, Francesca
- Testa, Francesco
- Gorin, Michael B
- Strom, Samuel P
- Bertelsen, Mette
- Rosenberg, Thomas
- Boone, Philip M
- Yuan, Bo
- Ayyagari, Radha
- Nagy, Peter L
- Tsang, Stephen H
- Gouras, Peter
- Collison, Frederick T
- Lupski, James R
- Fishman, Gerald A
- Allikmets, Rando
2014
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European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.563-573
- Li, Alexander H
- Hanchard, Neil A
- Azamian, Mahshid
- D'Alessandro, Lisa C A
- Coban-Akdemir, Zeynep
- Lopez, Keila N
- Hall, Nancy J
- Dickerson, Heather
- Nicosia, Annarita
- Fernbach, Susan
- Boone, Philip M
- Gambin, Tomaz
- Karaca, Ender
- Gu, Shen
- Yuan, Bo
- Jhangiani, Shalini N
- Doddapaneni, HarshaVardhan
- Hu, Jianhong
- Dinh, Huyen
- Jayaseelan, Joy
- Muzny, Donna
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- Towbin, Jeffrey
- Penny, Daniel
- Fraser, Charles
- Martin, James
- Lupski, James R
- Gibbs, Richard A
- Boerwinkle, Eric
- Ware, Stephanie M
- Belmont, John W
2019
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Nucleic acids research, 2017-02, Vol.45 (4), p.1633
- Gambin, Tomasz
- Akdemir, Zeynep C
- Yuan, Bo
- Gu, Shen
- Chiang, Theodore
- Carvalho, Claudia M B
- Shaw, Chad
- Jhangiani, Shalini
- Boone, Philip M
- Eldomery, Mohammad K
- Karaca, Ender
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- Muzny, Donna
- Charng, Wu-Lin
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- Belmont, John W
- Boerwinkle, Eric
- Beaudet, Arthur L
- Gibbs, Richard A
- Lupski, James R
2017
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American journal of human genetics, 2014-08, Vol.95 (2), p.143-161
- Boone, Philip M.
- Yuan, Bo
- Campbell, Ian M.
- Scull, Jennifer C.
- Withers, Marjorie A.
- Baggett, Brett C.
- Beck, Christine R.
- Shaw, Christine J.
- Stankiewicz, Pawel
- Moretti, Paolo
- Goodwin, Wendy E.
- Hein, Nichole
- Fink, John K.
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- Karbassi, Izabela D.
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- Stemmler, Susanne
- Lupski, James R.
2014
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Genetics in medicine, 2020-08, Vol.22 (8), p.1338-1347
- Zhang, Li Xin
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- Molidperee, Sirinart
- Galaz-Montoya, Carolina
- Liu, David S.
- Verloes, Alain
- Shillington, Amelle G.
- Izumi, Kosuke
- Ritter, Alyssa L.
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- Li, Dong
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- Tarpinian, Jennifer M.
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- Kukolich, Mary K.
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- Holm, Ingrid A.
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- Zarate, Yuri A.
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- Chong, Jessica X.
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- Lee, Brendan H.
- Yang, Xiang-Jiao
- Lupski, James R.
- Campeau, Philippe M.
2020
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American journal of human genetics, 2023-08, Vol.110 (8), p.1229-1248
- Wojcik, Monica H.
- Reuter, Chloe M.
- Marwaha, Shruti
- Mahmoud, Medhat
- Duyzend, Michael H.
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- Yuan, Bo
- Boone, Philip M.
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- Délot, Emmanuèle C.
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- Montgomery, Stephen B.
- Bamshad, Michael J.
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- Berger, Seth I.
- O'Donnell-Luria, Anne
- Sedlazeck, Fritz J.
- Miller, Danny E.
2023
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American journal of human genetics, 2022-11, Vol.109 (11), p.2049-2067
- Mohajeri, Kiana
- Yadav, Rachita
- D'haene, Eva
- Boone, Philip M.
- Erdin, Serkan
- Gao, Dadi
- Moyses-Oliveira, Mariana
- Bhavsar, Riya
- Currall, Benjamin B.
- O'Keefe, Kathryn
- Burt, Nicholas D.
- Lowther, Chelsea
- Lucente, Diane
- Salani, Monica
- Larson, Mathew
- Redin, Claire
- Dudchenko, Olga
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- Gusella, James F.
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2022
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Thorax, 2018-03, Vol.73 (3), p.270-276
2018
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Human mutation, 2013-10, Vol.34 (10), p.1439-1448
2013
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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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Human mutation, 2010-12, Vol.31 (12), p.1326-1342
- Boone, Philip M.
- Bacino, Carlos A.
- Shaw, Chad A.
- Eng, Patricia A.
- Hixson, Patricia M.
- Pursley, Amber N.
- Kang, Sung-Hae L.
- Yang, Yaping
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- Nowakowska, Beata A.
- del Gaudio, Daniela
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- Gibson, James B.
- Tsai, Anne C.-H.
- Bowers, Jennifer A.
- Reimschisel, Tyler E.
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- Gambin, Tomasz
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- Bi, Weimin
- Beaudet, Arthur L.
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2010
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European journal of medical genetics, 2020-09, Vol.63 (9), p.103983-103983, Article 103983
2020
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
2013
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.189-194
2020
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HGG advances, 2024-04, Vol.5 (2), p.100273, Article 100273
- Ansari, Morad
- Faour, Kamli N.W.
- Shimamura, Akiko
- Grimes, Graeme
- Kao, Emeline M.
- Denhoff, Erica R.
- Blatnik, Ana
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- Wang, Lily
- Helm, Benjamin M.
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- Bijlsma, Emilia K.
- Iwata-Otsubo, Aiko
- de Ravel, Thomy J.L.
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- Nykamp, Keith
- Stühn, Lara G.
- Haack, Tobias B.
- Korenke, G. Christoph
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- Bujakowska, Kinga M.
- Low, Karen J.
- Place, Emily
- Humberson, Jennifer
- Napier, Melanie P.
- Hoffman, Jessica
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- Deardorff, Matthew A.
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- Rockowitz, Shira
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- Boone, Philip M.
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Genome medicine, 2016-02, Vol.8 (1), p.13-13, Article 13
2016
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American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.3028-3032
2016
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Human genetics, 2011-07, Vol.130 (1), p.103-121
2011
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Genetics in medicine, 2011-06, Vol.13 (6), p.582-592
2011
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Genetics in medicine, 2014-05, Vol.16 (5), p.386-394
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100460, Article 100460
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Genetics in medicine, 2013-01, Vol.15 (1), p.45-54
2013
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