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American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.287-295
2015
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American journal of human genetics, 2016-11, Vol.99 (5), p.1034-1044
2016
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American journal of human genetics, 2012-02, Vol.90 (2), p.295-300
2012
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Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.44-44, Article 44
2024
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.565-570
2019
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Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.173-173, Article 173
2022
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PloS one, 2015-10, Vol.10 (10), p.e0140705-e0140705
2015
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Scientific reports, 2021-03, Vol.11 (1), p.6577-6577, Article 6577
2021
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BMC bioinformatics, 2021-04, Vol.22 (1), p.181-181, Article 181
2021
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European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.964-968
2014
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PloS one, 2014-06, Vol.9 (6), p.e98686-e98686
2014
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American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2944-2958
2007
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Journal of the American Academy of Dermatology, 2010-11, Vol.63 (5), p.799-804
2010
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Genetics in medicine, 2019-05, Vol.21 (5), p.1189-1198
- Parker, Victoria E R
- Keppler-Noreuil, Kim M
- Faivre, Laurence
- Luu, Maxime
- Oden, Neal L
- De Silva, Leena
- Sapp, Julie C
- Andrews, Katrina
- Bardou, Marc
- Chen, Kong Y
- Darling, Thomas N
- Gautier, Elodie
- Goldspiel, Barry R
- Hadj-Rabia, Smail
- Harris, Julie
- Kounidas, Georgios
- Kumar, Parag
- Lindhurst, Marjorie J
- Loffroy, Romaric
- Martin, Ludovic
- Phan, Alice
- Rother, Kristina I
- Widemann, Brigitte C
- Wolters, Pamela L
- Coubes, Christine
- Pinson, Lucile
- Willems, Marjolaine
- Vincent-Delorme, Catherine
- Vabres, Pierre
- Semple, Robert K
- Biesecker, Leslie G
2019
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BMC medical genetics, 2011-07, Vol.12 (1), p.101-101, Article 101
2011
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HGG advances, 2020-10, Vol.1 (1), p.100009-100009, Article 100009
2020
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The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619
- Lindhurst, Marjorie J
- Sapp, Julie C
- Teer, Jamie K
- Johnston, Jennifer J
- Finn, Erin M
- Peters, Kathryn
- Turner, Joyce
- Cannons, Jennifer L
- Bick, David
- Blakemore, Laurel
- Blumhorst, Catherine
- Brockmann, Knut
- Calder, Peter
- Cherman, Natasha
- Deardorff, Matthew A
- Everman, David B
- Golas, Gretchen
- Greenstein, Robert M
- Kato, B. Maya
- Keppler-Noreuil, Kim M
- Kuznetsov, Sergei A
- Miyamoto, Richard T
- Newman, Kurt
- Ng, David
- O'Brien, Kevin
- Rothenberg, Steven
- Schwartzentruber, Douglas J
- Singhal, Virender
- Tirabosco, Roberto
- Upton, Joseph
- Wientroub, Shlomo
- Zackai, Elaine H
- Hoag, Kimberly
- Whitewood-Neal, Tracey
- Robey, Pamela G
- Schwartzberg, Pamela L
- Darling, Thomas N
- Tosi, Laura L
- Mullikin, James C
- Biesecker, Leslie G
2011
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American journal of human genetics, 2019-03, Vol.104 (3), p.484-491
2019
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Genetics in medicine, 2018-10, Vol.20 (10), p.1175-1185
- Johnston, Jennifer J
- van der Smagt, Jasper J
- Rosenfeld, Jill A
- Pagnamenta, Alistair T
- Alswaid, Abdulrahman
- Baker, Eva H
- Blair, Edward
- Borck, Guntram
- Brinkmann, Julia
- Craigen, William
- Dung, Vu Chi
- Emrick, Lisa
- Everman, David B
- van Gassen, Koen L
- Gulsuner, Suleyman
- Harr, Margaret H
- Jain, Mahim
- Kuechler, Alma
- Leppig, Kathleen A
- McDonald-McGinn, Donna M
- Can, Ngoc Thi Bich
- Peleg, Amir
- Roeder, Elizabeth R
- Rogers, R Curtis
- Sagi-Dain, Lena
- Sapp, Julie C
- Schäffer, Alejandro A
- Schanze, Denny
- Stewart, Helen
- Taylor, Jenny C
- Verbeek, Nienke E
- Walkiewicz, Magdalena A
- Zackai, Elaine H
- Zweier, Christiane
- Zenker, Martin
- Lee, Brendan
- Biesecker, Leslie G
2018
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Nature genetics, 2012-08, Vol.44 (8), p.928-933
- LINDHURST, Marjorie J
- PARKER, Victoria E. R
- DALY, Allan
- HUSON, Susan M
- TOSI, Laura L
- CUNNINGHAM, Michael L
- DARLING, Thomas N
- GEER, Joseph
- GUCEV, Zoran
- SUTTON, V. Reid
- TZIOTZIOS, Christos
- DIXON, Adrian K
- PAYNE, Felicity
- HELLIWELL, Timothy
- O'RAHILLY, Stephen
- SAVAGE, David B
- WAKELAM, Michael J. O
- BARROSO, Ines
- BIESECKER, Leslie G
- SEMPLE, Robert K
- SAPP, Julie C
- RUDGE, Simon
- HARRIS, Julie
- WITKOWSKI, Alison M
- QIFENG ZHANG
- GROENEVELD, Matthijs P
- SCOTT, Carol E
2012
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BMC medical genomics, 2012-10, Vol.5 (1), p.45-45, Article 45
2012
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Genetics in medicine, 2021-12, Vol.23 (12), p.2260-2269
2021
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Genetics in medicine, 2017-12, Vol.19 (12), p.1376-1379
2017
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Journal of the American Academy of Dermatology, 2021-02, Vol.84 (2), p.415-424
2021
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American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1713-1733
- Keppler-Noreuil, Kim M.
- Sapp, Julie C.
- Lindhurst, Marjorie J.
- Parker, Victoria E.R.
- Blumhorst, Cathy
- Darling, Thomas
- Tosi, Laura L.
- Huson, Susan M.
- Whitehouse, Richard W.
- Jakkula, Eveliina
- Grant, Ian
- Balasubramanian, Meena
- Chandler, Kate E.
- Fraser, Jamie L.
- Gucev, Zoran
- Crow, Yanick J.
- Brennan, Leslie Manace
- Clark, Robin
- Sellars, Elizabeth A.
- Pena, Loren DM
- Krishnamurty, Vidya
- Shuen, Andrew
- Braverman, Nancy
- Cunningham, Michael L.
- Sutton, V. Reid
- Tasic, Velibor
- Graham Jr, John M.
- Geer Jr, Joseph
- Henderson, Alex
- Semple, Robert K.
- Biesecker, Leslie G.
2014
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- American Journal Of Medical Genetics. Part A
- American Journal Of Human Genetics
- Genetics In Medicine
- Cold Spring Harbor Molecular Case Studies
- Plos One
- American Journal Of Medical Genetics Part A
- Bmc Medical Genetics
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