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American journal of medical genetics. Part C, Seminars in medical genetics, 2016-12, Vol.172C (4), p.402-421
2016
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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 medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.565-570
2019
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American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2646-2661
2020
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.571-581
2019
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American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2829-2845
2021
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American journal of human genetics, 2015-09, Vol.97 (3), p.465-474
2015
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Clinical genetics, 2022-01, Vol.101 (1), p.32-47
- Douzgou, Sofia
- Rawson, Myfanwy
- Baselga, Eulalia
- Danielpour, Moise
- Faivre, Laurence
- Kashanian, Alon
- Keppler‐Noreuil, Kim M.
- Kuentz, Paul
- Mancini, Grazia M. S.
- Maniere, Marie‐Cecile
- Martinez‐Glez, Victor
- Parker, Victoria E.
- Semple, Robert K.
- Srivastava, Siddharth
- Vabres, Pierre
- De Wit, Marie‐Claire Y.
- Graham, John M.
- Clayton‐Smith, Jill
- Mirzaa, Ghayda M.
- Biesecker, Leslie G.
2022
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Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-306, Article 306
2021
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Birth defects research. A Clinical and molecular teratology, 2003-03, Vol.67 (3), p.193-201
2003
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American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1021-1032
2011
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2677-2684
2018
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Dermatologic clinics, 2017-01, Vol.35 (1), p.51
2017
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American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2964-2971
2013
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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, 2016-10, Vol.170A (10), p.2559-2569
2016
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American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2359-2365
2017
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Genes, 2023-10, Vol.14 (10), p.1948
2023
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2605-2610
2016
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Birth defects research, 2018-11, Vol.110 (19), p.1419-1432
2018
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American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2873-2885
2017
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American Journal of Medical Genetics Part A, 2016-08, Vol.170A (8), p.1959-1966
- Stevenson, David A.
- Schill, Lisa
- Schoyer, Lisa
- Andresen, Brage S.
- Bakker, Annette
- Bayrak-Toydemir, Pinar
- Burkitt-Wright, Emma
- Chatfield, Kathryn
- Elefteriou, Florent
- Elgersma, Ype
- Fisher, Michael J.
- Franz, David
- Gelb, Bruce D.
- Goriely, Anne
- Gripp, Karen W.
- Hardan, Antonio Y.
- Keppler-Noreuil, Kim M.
- Kerr, Bronwyn
- Korf, Bruce
- Leoni, Chiara
- McCormick, Frank
- Plotkin, Scott R.
- Rauen, Katherine A.
- Reilly, Karlyne
- Roberts, Amy
- Sandler, Abby
- Siegel, Dawn
- Walsh, Karin
- Widemann, Brigitte C.
2016
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American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2007-2073
2017
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American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2009-2016
2015
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The Journal of clinical investigation, 2018-04, Vol.128 (4), p.1496-1508
- Al-Olabi, Lara
- Polubothu, Satyamaanasa
- Dowsett, Katherine
- Andrews, Katrina A
- Stadnik, Paulina
- Joseph, Agnel P
- Knox, Rachel
- Pittman, Alan
- Clark, Graeme
- Baird, William
- Bulstrode, Neil
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- Gordon, Kristiana
- Hargrave, Darren
- Huson, Susan M
- Jacques, Thomas S
- James, Gregory
- Kondolf, Hannah
- Kangesu, Loshan
- Keppler-Noreuil, Kim M
- Khan, Amjad
- Lindhurst, Marjorie J
- Lipson, Mark
- Mansour, Sahar
- O'Hara, Justine
- Mahon, Caroline
- Mosica, Anda
- Moss, Celia
- Murthy, Aditi
- Ong, Juling
- Parker, Victoria E
- Rivière, Jean-Baptiste
- Sapp, Julie C
- Sebire, Neil J
- Shah, Rahul
- Sivakumar, Branavan
- Thomas, Anna
- Virasami, Alex
- Waelchli, Regula
- Zeng, Zhiqiang
- Biesecker, Leslie G
- Barnacle, Alex
- Topf, Maya
- Semple, Robert K
- Patton, E Elizabeth
- Kinsler, Veronica A
2018
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