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Human mutation, 2016-02, Vol.37 (2), p.148-154
- Huang, Lijia
- Vanstone, Megan R.
- Hartley, Taila
- Osmond, Matthew
- Barrowman, Nick
- Allanson, Judith
- Baker, Laura
- Dabir, Tabib A.
- Dipple, Katrina M.
- Dobyns, William B.
- Estrella, Jane
- Faghfoury, Hanna
- Favaro, Francine P.
- Goel, Himanshu
- Gregersen, Pernille A.
- Gripp, Karen W.
- Grix, Art
- Guion-Almeida, Maria-Leine
- Harr, Margaret H.
- Hudson, Cindy
- Hunter, Alasdair G.W.
- Johnson, John
- Joss, Shelagh K.
- Kimball, Amy
- Kini, Usha
- Kline, Antonie D.
- Lauzon, Julie
- Lildballe, Dorte L.
- López-González, Vanesa
- Martinezmoles, Johanna
- Meldrum, Cliff
- Mirzaa, Ghayda M.
- Morel, Chantal F.
- Morton, Jenny E.V.
- Pyle, Louise C.
- Quintero-Rivera, Fabiola
- Richer, Julie
- Scheuerle, Angela E.
- Schönewolf-Greulich, Bitten
- Shears, Deborah J.
- Silver, Josh
- Smith, Amanda C.
- Temple, I. Karen
- van de Kamp, Jiddeke M.
- van Dijk, Fleur S.
- Vandersteen, Anthony M.
- White, Sue M.
- Zackai, Elaine H.
- Zou, Ruobing
- Consortium, Care4Rare Canada
- Bulman, Dennis E.
- Boycott, Kym M.
- Lines, Matthew A.
2016
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Genes, 2021-09, Vol.12 (9), p.1392
2021
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Nature (London), 2018-02, Vol.554 (7690), p.112-117
2018
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Nature communications, 2016-01, Vol.7 (1), p.10328-10328, Article 10328
2016
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Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.134-135
2021
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American journal of medical genetics. Part C, Seminars in medical genetics, 2013-11, Vol.163C (4), p.283-294
2013
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Scientific reports, 2024-03, Vol.14 (1), p.7472-7472, Article 7472
2024
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American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.413-423
2021
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Ultrasound in obstetrics & gynecology, 2022-09, Vol.60 (S1), p.222-222
2022
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Clinical genetics, 2013-06, Vol.83 (6), p.499-510
2013
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Plastic and reconstructive surgery (1963), 2013-01, Vol.131 (1), p.86e-109e
2013
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Indian journal of ophthalmology, 2022-04, Vol.2 (2), p.640
2022
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Clinical genetics, 2023-02, Vol.103 (2), p.146-155
2023
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American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.437-440
2020
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Plastic and reconstructive surgery (1963), 2022-05, Vol.149 (5), p.930e
2022
Link zum Volltext
Nature genetics, 2011-01, Vol.43 (1), p.20-22
- Dauwerse, Johannes G
- Dixon, Jill
- Seland, Saskia
- Ruivenkamp, Claudia A L
- van Haeringen, Arie
- Hoefsloot, Lies H
- Peters, Dorien J M
- Boers, Agnes Clement-de
- Daumer-Haas, Cornelia
- Maiwald, Robert
- Zweier, Christiane
- Kerr, Bronwyn
- Cobo, Ana M
- Toral, Joaquín F
- Hoogeboom, A Jeannette M
- Lohmann, Dietmar R
- Hehr, Ute
- Dixon, Michael J
- Breuning, Martijn H
- Wieczorek, Dagmar
2011
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Plastic and reconstructive surgery (1963), 2023-03, Vol.151 (3), p.627
2023
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Facial plastic surgery clinics of North America, 2016-11, Vol.24 (4), p.531-543
2016
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Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2426-n/a
2024
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PLoS genetics, 2016-09, Vol.12 (9), p.e1006307-e1006307
2016
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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
- Bernier, Francois P.
- Caluseriu, Oana
- Ng, Sarah
- Schwartzentruber, Jeremy
- Buckingham, Kati J.
- Innes, A. Micheil
- Jabs, Ethylin Wang
- Innis, Jeffrey W.
- Schuette, Jane L.
- Gorski, Jerome L.
- Byers, Peter H.
- Andelfinger, Gregor
- Siu, Victoria
- Lauzon, Julie
- Fernandez, Bridget A.
- McMillin, Margaret
- Scott, Richard H.
- Racher, Hilary
- Majewski, Jacek
- Nickerson, Deborah A.
- Shendure, Jay
- Bamshad, Michael J.
- Parboosingh, Jillian S.
2012
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PLoS genetics, 2016-07, Vol.12 (7), p.e1006187-e1006187
2016
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Human mutation, 2020-08, Vol.41 (8), p.1372-1382
2020
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European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.52-56
2014
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The international journal of biochemistry & cell biology, 2009-06, Vol.41 (6), p.1229-1232
2009
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