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Items: 1 to 20 of 207

1.
Francesca Tomlinson, Ella O’Neill, Nai-Chieh Liu, David R. Sargan, Jane F. Ladlow
PLoS One. 2024; 19(12): e0315411. Published online 2024 Dec 31. doi: 10.1371/journal.pone.0315411
PMCID:
PMC11687697
2.
Rong Ren, Yedan Liu, Peipei Liu, Jing Zhao, Mei Hou, Shuo Li, Zongbo Chen, Aiyun Yuan
BMC Med Genomics. 2024; 17: 290. Published online 2024 Dec 18. doi: 10.1186/s12920-024-02065-5
PMCID:
PMC11657243
3.
Rebecca S. Tooze, Kerry A. Miller, Sigrid M.A. Swagemakers, Eduardo Calpena, Simon J. McGowan, Odile Boute, Corinne Collet, David Johnson, Fanny Laffargue, Nicole de Leeuw, Jenny V. Morton, Peter Noons, Charlotte W. Ockeloen, Julie M. Phipps, Tiong Yang Tan, Andrew T. Timberlake, Clemence Vanlerberghe, Steven A. Wall, Astrid Weber, Louise C. Wilson, Elaine H. Zackai, Irene M.J. Mathijssen, Stephen R.F. Twigg, Andrew O.M. Wilkie
Genet Med. 2023 Sep; 25(9): 100883. doi: 10.1016/j.gim.2023.100883
PMCID:
PMC11554955
4.
Isaac S. Walton, Emma McCann, Astrid Weber, Jenny E. V. Morton, Peter Noons, Louise C. Wilson, Rosanna C. Ching, Deirdre Cilliers, David Johnson, Julie M. Phipps, Deborah J. Shears, Gregory P. L. Thomas, Steven A. Wall, Stephen R. F. Twigg, Andrew O. M. Wilkie
J Anat. 2024 Dec; 245(6): 874–878. Published online 2024 May 17. doi: 10.1111/joa.14052
PMCID:
PMC11547237
5.
Sara Ajami, Zoe Van den Dam, Julia Hut, Dawn Savery, Milton Chin, Maarten Koudstaal, Miranda Steacy, Alessandra Carriero, Andrew Pitsillides, Y.‐M. Chang, Christoph Rau, Shashidhara Marathe, David Dunaway, Noor Ul Owase Jeelani, Silvia Schievano, Erwin Pauws, Alessandro Borghi
J Anat. 2024 Dec; 245(6): 864–873. Published online 2024 Aug 2. doi: 10.1111/joa.14121
PMCID:
PMC11547221
6.
Lucia De Martino, Peppino Mirabelli, Lucia Quaglietta, Ursula Pia Ferrara, Stefania Picariello, Domenico Vincenzo De Gennaro, Marco Aiello, Giovanni Smaldone, Ferdinando Aliberti, Pietro Spennato, Daniele De Brasi, Eugenio Covelli, Giuseppe Cinalli
Childs Nerv Syst. 2024; 40(11): 3693–3700. Published online 2024 Aug 12. doi: 10.1007/s00381-024-06555-w
PMCID:
PMC11538127
7.
Andrew T. Timberlake, Kshipra Hemal, Jonas A. Gustafson, Le Thi Hao, Irene Valenzuela, Anne Slavotinek, Michael L. Cunningham, Kristopher T. Kahle, Richard P. Lifton, John A. Persing
J Neurosurg Pediatr. 2024 Jun 21 : 2024.5.PEDS24115. Published online 2024 Jun 21. doi: 10.3171/2024.5.PEDS24115
PMCID:
PMC11200303
8.
Xuan Anita He(何璇), Anna Berenson, Michelle Bernard, Chris Weber, Laura E Cook, Axel Visel, Juan I Fuxman Bass, Shannon Fisher
Hum Mol Genet. 2024 May 15; 33(10): 837–849. Published online 2023 Oct 26. doi: 10.1093/hmg/ddad182
PMCID:
PMC11070136
9.
Anthony M. Musolf, Cristina M. Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R. Shaffer, Mary L. Marazita, Peter Claes, Seth M. Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L. Cunningham, Paul A. Romitti, Simeon A. Boyadjiev
Sci Rep. 2024; 14: 8533. Published online 2024 Apr 12. doi: 10.1038/s41598-024-58343-w
PMCID:
PMC11014861
10.
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys
J Med Genet. 2024 Apr; 61(4): 363–368. Published online 2024 Jan 30. doi: 10.1136/jmg-2023-109151
PMCID:
PMC10982635
11.
Julia Schmidt, Silke Kaulfuß, Hagen Ott, Marianne Gaubert, Nadine Reintjes, Felix Bremmer, Steffi Dreha-Kulaczewski, Philipp Stroebel, Gökhan Yigit, Bernd Wollnik
Hum Genet. 2024; 143(2): 159–168. Published online 2024 Jan 24. doi: 10.1007/s00439-023-02634-1
PMCID:
PMC10881730
12.
ShuBin Feng, Qiang Feng, LiuJian Dong, Qiang Lv, ShiYue Mei, YaoDong Zhang
J Orthop Surg Res. 2024; 19: 146. Published online 2024 Feb 19. doi: 10.1186/s13018-024-04604-3
PMCID:
PMC10875791
13.
Seoyeon Bok, Alisha R. Yallowitz, Jun Sun, Jason McCormick, Michelle Cung, Lingling Hu, Sarfaraz Lalani, Zan Li, Branden R. Sosa, Tomas Baumgartner, Paul Byrne, Tuo Zhang, Kyle W. Morse, Fatma F. Mohamed, Chunxi Ge, Renny T. Franceschi, Randy T. Cowling, Barry H. Greenberg, David J. Pisapia, Thomas A. Imahiyerobo, Jr, Shenela Lakhani, M. Elizabeth Ross, Caitlin E. Hoffman, Shawon Debnath, Matthew B. Greenblatt
Nature.
Published in final edited form as: Nature. 2023 Sep; 621(7980): 804–812. Published online 2023 Sep 20. doi: 10.1038/s41586-023-06526-2
PMCID:
PMC10799660
14.
Leona Morožin Pohovski, Ivona Sansović, Katarina Vulin, Ljubica Odak
Croat Med J. 2023 Oct; 64(5): 339–343. doi: 10.3325/cmj.2023.64.339
PMCID:
PMC10668035
15.
Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu
Hum Genet. 2023; 142(11): 1571–1586. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02598-2
PMCID:
PMC10602971
16.
Michael J Gruss, Colleen O’Callaghan, Molly Donnellan, Ann K Corsi
Genetics. 2023 Aug; 224(4): iyad066. Published online 2023 Apr 17. doi: 10.1093/genetics/iyad066
PMCID:
PMC10411555
17.
Dan G. O’Neill, Kirsten M. McMillan, David B. Church, Dave C. Brodbelt
PLoS One. 2023; 18(7): e0288081. Published online 2023 Jul 26. doi: 10.1371/journal.pone.0288081
PMCID:
PMC10370710
18.
Federico Di Rocco, Massimiliano Rossi, Isabelle Verlut, Alexandru Szathmari, Pierre Aurélien Beuriat, Nicolas Chatron, Julie Chauvel-Picard, Carmine Mottolese, Pauline Monin, Matthieu Vinchon, Sofia Guernouche, Corinne Collet
Eur J Hum Genet. 2023 Jun; 31(6): 621–628. Published online 2023 Feb 3. doi: 10.1038/s41431-023-01295-y
PMCID:
PMC10250395
19.
Angeliki Vogiatzi, Kleoniki Keklikoglou, Konstantinos Makris, Dionysia Stamatia Argyrou, Athanasios Zacharopoulos, Varvara Sotiropoulou, Nikolaos Parthenios, Angelos Gkikas, Maria Kokkori, Melodie S. W. Richardson, Aimée L. Fenwick, Sofia Archontidi, Christos Arvanitidis, Jeremy Robertson, John Parthenios, Giannis Zacharakis, Stephen R. F. Twigg, Andrew O. M. Wilkie, George Mavrothalassitis
Int J Mol Sci. 2023 May; 24(9): 7961. Published online 2023 Apr 27. doi: 10.3390/ijms24097961
PMCID:
PMC10178537
20.
Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor
J Med Genet. 2023 May; 60(5): 505–510. Published online 2022 Nov 21. doi: 10.1136/jmg-2022-108753
PMCID:
PMC10176330

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