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American journal of ophthalmology, 2024-02, Vol.258, p.183-195
- Patterson, Karynne
- Chong, Jessica X
- Chung, Doug D
- Lisch, Walter
- Karp, Carol L
- Dreisler, Erling
- Lockington, David
- Rohrbach, Jens M
- Garczarczyk-Asim, Dorota
- Müller, Thomas
- Tuft, Stephen J
- Skalicka, Pavlina
- Wilnai, Yael
- Samra, Nadra Naser
- Ibrahim, Ali
- Mandel, Hanna
- Davidson, Alice E
- Liskova, Petra
- Aldave, Anthony J
- Bamshad, Michael J
- Janecke, Andreas R
2024
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European journal of medical genetics, 2021-08, Vol.64 (8), p.104249-104249, Article 104249
2021
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European journal of medical genetics, 2020-11, Vol.63 (11), p.104020, Article 104020
2020
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American journal of human genetics, 2019-02, Vol.104 (2), p.203-212
- Platzer, Konrad
- Sticht, Heinrich
- Edwards, Stacey L.
- Allen, William
- Angione, Kaitlin M.
- Bonati, Maria T.
- Brasington, Campbell
- Cho, Megan T.
- Demmer, Laurie A.
- Falik-Zaccai, Tzipora
- Gamble, Candace N.
- Hellenbroich, Yorck
- Iascone, Maria
- Kok, Fernando
- Mahida, Sonal
- Mandel, Hanna
- Marquardt, Thorsten
- McWalter, Kirsty
- Panis, Bianca
- Pepler, Alexander
- Pinz, Hailey
- Ramos, Luiza
- Shinde, Deepali N.
- Smith-Hicks, Constance
- Stegmann, Alexander P.A.
- Stöbe, Petra
- Stumpel, Constance T.R.M.
- Wilson, Carolyn
- Lemke, Johannes R.
- Di Donato, Nataliya
- Miller, Kenneth G.
- Jamra, Rami
2019
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European journal of paediatric neurology, 2018-05, Vol.22 (3), p.525-531
2018
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Cell, 2018-02, Vol.172 (5), p.952-965.e18
- Zhang, Shen-Ying
- Clark, Nathaniel E.
- Freije, Catherine A.
- Pauwels, Elodie
- Taggart, Allison J.
- Okada, Satoshi
- Mandel, Hanna
- Garcia, Paula
- Ciancanelli, Michael J.
- Biran, Anat
- Lafaille, Fabien G.
- Tsumura, Miyuki
- Cobat, Aurélie
- Luo, Jingchuan
- Volpi, Stefano
- Zimmer, Bastian
- Sakata, Sonoko
- Dinis, Alexandra
- Ohara, Osamu
- Garcia Reino, Eduardo J.
- Dobbs, Kerry
- Hasek, Mary
- Holloway, Stephen P.
- McCammon, Karen
- Hussong, Stacy A.
- DeRosa, Nicholas
- Van Skike, Candice E.
- Katolik, Adam
- Lorenzo, Lazaro
- Hyodo, Maki
- Faria, Emilia
- Halwani, Rabih
- Fukuhara, Rie
- Smith, Gregory A.
- Galvan, Veronica
- Damha, Masad J.
- Al-Muhsen, Saleh
- Itan, Yuval
- Boeke, Jef D.
- Notarangelo, Luigi D.
- Studer, Lorenz
- Kobayashi, Masao
- Diogo, Luisa
- Fairbrother, William G.
- Abel, Laurent
- Rosenberg, Brad R.
- Hart, P. John
- Etzioni, Amos
- Casanova, Jean-Laurent
2018
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European journal of medical genetics, 2017-06, Vol.60 (6), p.317-320
2017
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American journal of human genetics, 2016-11, Vol.99 (5), p.1172-1180
2016
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European journal of medical genetics, 2016-04, Vol.59 (4), p.204-209
2016
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American journal of human genetics, 2014-12, Vol.95 (6), p.708-720
- Kopajtich, Robert
- Nicholls, Thomas J.
- Rorbach, Joanna
- Metodiev, Metodi D.
- Freisinger, Peter
- Mandel, Hanna
- Vanlander, Arnaud
- Ghezzi, Daniele
- Carrozzo, Rosalba
- Taylor, Robert W.
- Marquard, Klaus
- Murayama, Kei
- Wieland, Thomas
- Schwarzmayr, Thomas
- Mayr, Johannes A.
- Pearce, Sarah F.
- Powell, Christopher A.
- Saada, Ann
- Ohtake, Akira
- Invernizzi, Federica
- Lamantea, Eleonora
- Sommerville, Ewen W.
- Pyle, Angela
- Chinnery, Patrick F.
- Crushell, Ellen
- Okazaki, Yasushi
- Kohda, Masakazu
- Kishita, Yoshihito
- Tokuzawa, Yoshimi
- Assouline, Zahra
- Rio, Marlène
- Feillet, François
- Mousson de Camaret, Bénédict
- Chretien, Dominique
- Munnich, Arnold
- Menten, Björn
- Sante, Tom
- Smet, Joél
- Régal, Luc
- Lorber, Abraham
- Khoury, Asaad
- Zeviani, Massimo
- Strom, Tim M.
- Meitinger, Thomas
- Bertini, Enrico S.
- Van Coster, Rudy
- Klopstock, Thomas
- Rötig, Agnès
- Haack, Tobias B.
- Minczuk, Michal
- Prokisch, Holger
2014
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European journal of medical genetics, 2014-11, Vol.57 (11), p.607-612
2014
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Pediatric neurology, 2014-04, Vol.50 (4), p.421-426
2014
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Fertility and sterility, 2012-07, Vol.98 (1), p.77-83
2012
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American journal of human genetics, 2012-04, Vol.90 (4), p.708-714
2012
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Clinical therapeutics, 2011-06, Vol.33 (6), p.S17-S17
2011
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American journal of human genetics, 2010-11, Vol.87 (5), p.667-670
2010
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American journal of human genetics, 2010-02, Vol.86 (2), p.295-295
2010
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Journal of hepatology, 2010-02, Vol.52 (2), p.292-295
2010
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Molecular genetics and metabolism, 2010, Vol.99 (1), p.26-33
2010
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European journal of paediatric neurology, 2009-11, Vol.13 (6), p.530-533
2009
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Fertility and sterility, 2009-04, Vol.91 (4), p.1479-1482
2009
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Molecular genetics and metabolism, 2009-02, Vol.96 (2), p.S28-S29
2009
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Clinical therapeutics, 2008, Vol.30, p.S9-S10
2008
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Molecular genetics and metabolism, 2007-07, Vol.91 (3), p.299-299
2007
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Biology of blood and marrow transplantation, 2007-03, Vol.13 (3), p.329-338
2007
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- American Journal Of Human Genetics
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- Molecular Genetics And Metabolism
- Clinical Therapeutics
- Biochemical And Biophysical Research Communications
- European Journal Of Paediatric Neurology
- Fertility And Sterility
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