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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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Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.27-27, Article 27
2022
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eLife, 2020-12, Vol.9
- El Hayek, Lauretta
- Tuncay, Islam Oguz
- Nijem, Nadine
- Russell, Jamie
- Ludwig, Sara
- Kaur, Kiran
- Li, Xiaohong
- Anderton, Priscilla
- Tang, Miao
- Gerard, Amanda
- Heinze, Anja
- Zacher, Pia
- Alsaif, Hessa S
- Rad, Aboulfazl
- Hassanpour, Kazem
- Abbaszadegan, Mohammad Reza
- Washington, Camerun
- DuPont, Barbara R
- Louie, Raymond J
- Couse, Madeline
- Faden, Maha
- Rogers, R Curtis
- Abou Jamra, Rami
- Elias, Ellen R
- Maroofian, Reza
- Houlden, Henry
- Lehman, Anna
- Beutler, Bruce
- Chahrour, Maria H
2020
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Clinical genetics, 2023-08, Vol.104 (2), p.198-209
- Moffitt, Bridgette A.
- Oberman, Lindsay M.
- Beamer, Laura
- Srikanth, Sujata
- Jain, Lavanya
- Cascio, Lauren
- Jones, Kelly
- Pauly, Rini
- May, Melanie
- Skinner, Cindy
- Buchanan, Caroline
- DuPont, Barbara R.
- Kaufmann, Walter E.
- Valentine, Kathleen
- Ward, Linda D.
- Ivankovic, Diana
- Rogers, R. Curtis
- Phelan, Katy
- Sarasua, Sara M.
- Boccuto, Luigi
2023
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American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1219-1225
2017
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2934-2935
2018
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American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2416-2425
- Robin, Nathaniel H.
- Taylor, Clare J.
- McDonald-McGinn, Donna M.
- Zackai, Elaine H.
- Bingham, Peter
- Collins, Kevin J.
- Earl, Dawn
- Gill, Deepak
- Granata, Tiziana
- Guerrini, Renzo
- Katz, Naomi
- Kimonis, Virginia
- Lin, Jean-Pierre
- Lynch, David R.
- Mohammed, Shehla N.
- Massey, Roger F.
- McDonald, Marie
- Rogers, R. Curtis
- Splitt, Miranda
- Stevens, Cathy A.
- Tischkowitz, Marc D.
- Stoodley, Neil
- Leventer, Richard J
- Pilz, Daniela T.
- Dobyns, William B.
2006
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Journal of medical genetics, 2011-11, Vol.48 (11), p.761-766
2011
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Cold Spring Harbor molecular case studies, 2016-07, Vol.2 (4), p.a001107-a001107
2016
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Genetics in medicine, 2014-04, Vol.16 (4), p.318-328
2014
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Genetics in medicine, 2023-01, Vol.25 (1), p.63-75
- Coenen-van der Spek, Jet
- Relator, Raissa
- Kerkhof, Jennifer
- McConkey, Haley
- Levy, Michael A.
- Tedder, Matthew L.
- Louie, Raymond J.
- Fletcher, Robin S.
- Moore, Hannah W.
- Childers, Anna
- Farrelly, Ellyn R.
- Champaigne, Neena L.
- Lyons, Michael J.
- Everman, David B.
- Rogers, R. Curtis
- Skinner, Steven A.
- Renck, Alicia
- Matalon, Dena R.
- Dills, Shelley K.
- Monteleone, Berrin
- Demirdas, Serwet
- Dingemans, Alexander J.M.
- Donker Kaat, Laura
- Kolk, Sharon M.
- Pfundt, Rolph
- Rump, Patrick
- Sadikovic, Bekim
- Kleefstra, Tjitske
- Butler, Kameryn M.
2023
Link zum Volltext
Genetics in Medicine Open, 2023, Vol.1 (1), p.100605, Article 100605
2023
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Journal of human lactation, 2016-08, Vol.32 (3), p.481-488
2016
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American Journal of Medical Genetics Part A, 2015-07, Vol.167A (7), p.1679-1680
2015
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American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2741-2749
2013
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Case reports in genetics, 2011-01, Vol.2011, p.421582-4
2011
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American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1234-1238
2014
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Journal of child neurology, 2005-10, Vol.20 (10), p.852-857
2005
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American journal of medical genetics. Part C, Seminars in medical genetics, 2010-11, Vol.154C (4), p.477-485
2010
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Clinical pediatrics, 2006-05, Vol.45 (4), p.367-372
2006
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American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2324-2326
2011
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American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1102-1117
2014
Link zum Volltext
Genetics in medicine, 2009-11, Vol.11 (11), p.769-775
2009
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American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2644-2650
2008
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American journal of medical genetics. Part A, 2013-01, Vol.161A (1), p.120-130
- Zarate, Yuri A.
- Dwivedi, Alka
- Bartel, Frank O.
- Bellomo, M. Allison
- Cathey, Sara S.
- Champaigne, Neena L.
- Clarkson, L. Kate
- DuPont, Barbara R.
- Everman, David B.
- Geer, Joseph S.
- Gordon, Barbara C.
- Lichty, Angie W.
- Lyons, Michael J.
- Rogers, R. Curtis
- Saul, Robert A.
- Schroer, Richard J.
- Skinner, Steven A.
- Stevenson, Roger E.
2013
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