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American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.156-172
2014
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Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628
2015
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American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1473-1488
2017
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American journal of medical genetics. Part C, Seminars in medical genetics, 2013-05, Vol.163C (2), p.122-130
2013
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Developmental cell, 2019-12, Vol.51 (6), p.713-729.e6
2019
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Human genetics, 2014-08, Vol.133 (8), p.1023-1039
2014
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Lancet neurology, 2015-12, Vol.14 (12), p.1182-1195
- Mirzaa, Ghayda M, Dr
- Conti, Valerio, PhD
- Timms, Andrew E, PhD
- Smyser, Christopher D, MD
- Ahmed, Sarah, MD
- Carter, Melissa, MD
- Barnett, Sarah, MS
- Hufnagel, Robert B, MD
- Goldstein, Amy, MD
- Narumi-Kishimoto, Yoko, MD
- Olds, Carissa, MSc
- Collins, Sarah, MS
- Johnston, Kathreen, MD
- Deleuze, Jean-François, PhD
- Nitschké, Patrick, PhD
- Friend, Kathryn, PhD
- Harris, Catharine, MD
- Goetsch, Allison, MS
- Martin, Beth, BS
- Boyle, Evan August, BS
- Parrini, Elena, MD
- Mei, Davide, MSLT
- Tattini, Lorenzo, PhD
- Slavotinek, Anne, Prof
- Blair, Ed, MRCP
- Barnett, Christopher, MBBS
- Shendure, Jay, Prof
- Chelly, Jamel, Prof
- Dobyns, William B, Prof
- Guerrini, Renzo, Prof
2015
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American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3127-3131
2017
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American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.269-291
2012
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American journal of human genetics, 2016-11, Vol.99 (5), p.1117-1129
- Di Donato, Nataliya
- Jean, Ying Y.
- Maga, A. Murat
- Krewson, Briana D.
- Shupp, Alison B.
- Avrutsky, Maria I.
- Roy, Achira
- Collins, Sarah
- Olds, Carissa
- Willert, Rebecca A.
- Czaja, Agnieszka M.
- Johnson, Rachel
- Stover, Jessi A.
- Gottlieb, Steven
- Bartholdi, Deborah
- Rauch, Anita
- Goldstein, Amy
- Boyd-Kyle, Victoria
- Aldinger, Kimberly A.
- Mirzaa, Ghayda M.
- Nissen, Anke
- Brigatti, Karlla W.
- Puffenberger, Erik G.
- Millen, Kathleen J.
- Strauss, Kevin A.
- Dobyns, William B.
- Troy, Carol M.
- Jinks, Robert N.
2016
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American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.582-590
2019
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American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2301-2308
2018
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American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2879-2886
2014
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Advances in therapy, 2022-09, Vol.39 (9), p.3871-3880
2022
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Pediatric neurology, 2013-05, Vol.48 (5), p.367-377
- Mirzaa, Ghayda M., MD
- Paciorkowski, Alex R., MD
- Marsh, Eric D., MD
- Berry-Kravis, Elizabeth M., MD, PhD
- Medne, Livija, MS
- Grix, Art, MD
- Wirrell, Elaine C., MD
- Powell, Berkley R., MD
- Nickels, Katherine C., MD
- Burton, Barbara, MD
- Paras, Andrea, MS
- Kim, Katherine, MS
- Chung, Wendy, MD
- Dobyns, William B., MD
- Das, Soma, PhD
2013
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PloS one, 2014-12, Vol.9 (12), p.e114903-e114903
- Dubchak, Inna
- Balasubramanian, Sandhya
- Wang, Sheng
- Cem, Meydan
- Meyden, Cem
- Sulakhe, Dinanath
- Poliakov, Alexander
- Börnigen, Daniela
- Xie, Bingqing
- Taylor, Andrew
- Ma, Jianzhu
- Paciorkowski, Alex R
- Mirzaa, Ghayda M
- Dave, Paul
- Agam, Gady
- Xu, Jinbo
- Al-Gazali, Lihadh
- Mason, Christopher E
- Ross, M Elizabeth
- Maltsev, Natalia
- Gilliam, T Conrad
- Huang, Qingyang
2014
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Journal of medical genetics, 2023-05, Vol.60 (5), p.511
2023
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Nature genetics, 2012-08, Vol.44 (8), p.934-940
- RIVIERE, Jean-Baptiste
- MIRZAA, Ghayda M
- WORTHYLAKE, Thea
- SULLIVAN, Christopher T
- WARD, Thomas R
- BUTLER, Hailly E
- KRAMER, Nancy A
- ALBRECHT, Beate
- ARMOUR, Christine M
- ARMSTRONG, Linlea
- CALUSERIU, Oana
- CYTRYNBAUM, Cheryl
- O'ROAK, Brian J
- DROLET, Beth A
- INNES, Amicheil
- LAUZON, Juliel
- LIN, Angela E
- MANCINI, Grazia M. S
- MESCHINO, Wendy S
- REGGIN, James D
- SAGGAR, Anand K
- LERMAN-SAGIE, Tally
- UYANIK, Gokhan
- BEDDAOUI, Margaret
- WEKSBERG, Rosanna
- ZIRN, Birgit
- BEAULIEU, Chandree L
- MAJEWSKI, Jacek
- BULMAN, Dennis E
- O'DRISCOLL, Mark
- SHENDURE, Jay
- GRAHAM, John M
- BOYCOTT, Kym M
- DOBYNS, William B
- ALCANTARA, Diana
- CONWAY, Robert L
- ST-ONGE, Judith
- SCHWARTZENTRUBER, Jeremy A
- GRIPP, Karen W
- NIKKEL, Sarah M
2012
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Genetics in medicine, 2018-11, Vol.20 (11), p.1354-1364
- Di Donato, Nataliya
- Timms, Andrew E
- Aldinger, Kimberly A
- Mirzaa, Ghayda M
- Bennett, James T
- Collins, Sarah
- Olds, Carissa
- Mei, Davide
- Chiari, Sara
- Carvill, Gemma
- Myers, Candace T
- Rivière, Jean-Baptiste
- Zaki, Maha S
- Gleeson, Joseph G
- Rump, Andreas
- Conti, Valerio
- Parrini, Elena
- Ross, M Elizabeth
- Ledbetter, David H
- Guerrini, Renzo
- Dobyns, William B
2018
Link zum Volltext
Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622
- Alcantara, Diana
- Timms, Andrew E
- Gripp, Karen
- Baker, Laura
- Park, Kaylee
- Collins, Sarah
- Cheng, Chi
- Stewart, Fiona
- Mehta, Sarju G
- Saggar, Anand
- Sztriha, László
- Zombor, Melinda
- Caluseriu, Oana
- Mesterman, Ronit
- Van Allen, Margot I
- Jacquinet, Adeline
- Ygberg, Sofia
- Bernstein, Jonathan A
- Wenger, Aaron M
- Guturu, Harendra
- Bejerano, Gill
- Gomez-Ospina, Natalia
- Lehman, Anna
- Alfei, Enrico
- Pantaleoni, Chiara
- Conti, Valerio
- Guerrini, Renzo
- Moog, Ute
- Graham, Jr, John M
- Hevner, Robert
- Dobyns, William B
- O'Driscoll, Mark
- Mirzaa, Ghayda M
2017
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Journal of the American Academy of Dermatology, 2022-07, Vol.87 (1), p.162-164
2022
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American journal of medical genetics. Part A, 2011-09, Vol.155 (9), p.2080-2087
2011
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Brain (London, England : 1878), 2022-04, Vol.145 (3), p.925-938
- Pirozzi, Filomena
- Berkseth, Matthew
- Shear, Rylee
- Gonzalez, Lorenzo
- Timms, Andrew E
- Sulc, Josef
- Pao, Emily
- Oyama, Nora
- Forzano, Francesca
- Conti, Valerio
- Guerrini, Renzo
- Doherty, Emily S
- Saitta, Sulagna C
- Lockwood, Christina M
- Pritchard, Colin C
- Dobyns, William B
- Novotny, Edward
- Wright, Jason N N
- Saneto, Russell P
- Friedman, Seth
- Hauptman, Jason
- Ojemann, Jeffrey
- Kapur, Raj P
- Mirzaa, Ghayda M
2022
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Genetics in medicine, 2021-01, Vol.23 (1), p.123-130
2021
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Nature genetics, 2014-05, Vol.46 (5), p.510-515
- Mirzaa, Ghayda
- Parry, David A
- Fry, Andrew E
- Giamanco, Kristin A
- Schwartzentruber, Jeremy
- Vanstone, Megan
- Logan, Clare V
- Roberts, Nicola
- Johnson, Colin A
- Singh, Shawn
- Kholmanskikh, Stanislav S
- Adams, Carissa
- Hodge, Rebecca D
- Hevner, Robert F
- Bonthron, David T
- Braun, Kees P J
- Faivre, Laurence
- Rivière, Jean-Baptiste
- St-Onge, Judith
- Gripp, Karen W
- Mancini, Grazia Ms
- Pang, Ki
- Sweeney, Elizabeth
- van Esch, Hilde
- Verbeek, Nienke
- Wieczorek, Dagmar
- Steinraths, Michelle
- Majewski, Jacek
- Boycot, Kym M
- Pilz, Daniela T
- Ross, M Elizabeth
- Dobyns, William B
- Sheridan, Eamonn G
2014
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