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Items: 1 to 20 of 386

1.
Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Jean‐Pierre Bernard, Claire Colmant, Philippe Roth, Nicolas Bourgon, Pierre Mace, Alice Thoreau, Yves Ville, Joana Bengoa, Zaina Ait Arkoub, Cécile Fourrage, Ferechté Encha‐Razavi, Bettina Bessières, Tania Attié‐Bitach
Mol Genet Genomic Med. 2025 Apr; 13(4): e2442. Published online 2025 Apr 11. doi: 10.1002/mgg3.2442
PMCID:
PMC11986689
2.
Noémi Dahan‑Oliel, Sarah Cachecho, Clarice Araujo, Alicja Fąfara, Francis Lacombe, Ani Samargian, Camille Costa, Maureen Donohoe, Ann Flanagan, Bart Kowalczyk, Courtney Krakie, Lisa Wagner, Carolina Navalón, Verity Pacey, Unni Steen, Misha Walker, Trudy Wong, André Bussières
Orphanet J Rare Dis. 2025; 20: 168. Published online 2025 Apr 9. doi: 10.1186/s13023-025-03671-x
PMCID:
PMC11983950
3.
Thalis Asimakopoulos, Panagiotis Prodromakis, Irene C Kouroukli
Cureus. 2025 Mar; 17(3): e80300. Published online 2025 Mar 9. doi: 10.7759/cureus.80300
PMCID:
PMC11977437
4.
Yukun He, Marlies Verleyen, Bert Callewaert, Arne Burssens, Emmanuel Audenaert
Clin Genet. 2025 May; 107(5): 485–494. Published online 2025 Feb 18. doi: 10.1111/cge.14730
PMCID:
PMC11973014
5.
Parag M Tamhankar, Tushar Kachhadiya, Vasundhara Tamhankar, Pramila G Menon, Shalin Vaniawala, Shilpa M Mithbawkar
Cureus. 2025 Mar; 17(3): e80010. Published online 2025 Mar 4. doi: 10.7759/cureus.80010
PMCID:
PMC11966592
6.
Bethânia de Freitas Rodrigues Ribeiro, André Rodrigues Façanha Barreto, André Pessoa, Raimunda do Socorro da Silva Azevedo, Flávia de Freitas Rodrigues, Bruna da Cruz Beyruth Borges, Natália Pimentel Moreno Mantilla, Davi Dantas Muniz, Jannifer Oliveira Chiang, Lucas Rosa Fraga, Fernanda Sales Luiz Vianna, Maria Teresa Vieira Sanseverino, Lilith Schuler Faccini, Fernanda Eduarda das Neves Martins, Rafael da Silva Azevedo, Lívia Carício Martins, Livia Medeiros Neves Casseb, Consuelo Silva Oliveira, Pedro Fernando da Costa Vasconcelos, Juarez Antônio Simões Quaresma, Alberto Mantovani Abeche, Vania de Mesquita Gadelha Prazeres, Lucia Andreia Nunes de Oliveira, Simone de Menezes Karam, Giulia Radin, Miguel Del Campo, Camila V. Ventura, Lavinia Schuler-Faccini
Viruses. 2025 Mar; 17(3): 397. Published online 2025 Mar 11. doi: 10.3390/v17030397
PMCID:
PMC11945744
7.
Arda Arduç, Johanna I. P. De Vries, Maria B. Tan-Sindhunata, Femke Stoelinga, Remco Jansen, Ingeborg H. Linskens
Orphanet J Rare Dis. 2025; 20: 129. Published online 2025 Mar 17. doi: 10.1186/s13023-025-03631-5
PMCID:
PMC11912775
8.
Åsa Bartonek, Mikael Reimeringer, Marie Eriksson
BMC Musculoskelet Disord. 2025; 26: 141. Published online 2025 Feb 12. doi: 10.1186/s12891-025-08366-9
PMCID:
PMC11817894
9.
Naresh Tayade, Gautham Manoj, Akshay Kewat, Anjali Krishna A, Rajiv Devulapalli, Somesh Kumar, Sunil Kumar Polipalli, Bipin G. Nair, Obul Reddy Bandapalli, Prashanth Suravajhala
J Med Case Rep. 2025; 19: 43. Published online 2025 Jan 31. doi: 10.1186/s13256-025-05052-1
PMCID:
PMC11786458
10.
Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan
Ital J Pediatr. 2025; 51: 6. Published online 2025 Jan 21. doi: 10.1186/s13052-025-01858-3
PMCID:
PMC11748807
11.
Artem E. Komissarov, Olga E. Agranovich, Ianina A. Kuchinskaia, Irina V. Tkacheva, Olga I. Bolshakova, Evgenia M. Latypova, Sergey F. Batkin, Svetlana V. Sarantseva
Int J Mol Sci. 2025 Jan; 26(1): 124. Published online 2024 Dec 26. doi: 10.3390/ijms26010124
PMCID:
PMC11719965
12.
Fahmida Essop, Bronwyn Dillon, Felicity Mhlongo, Louisa Bhengu, Thirona Naicker, Lindsay Lambie, Liani Smit, Karen Fieggen, Anneline Lochan, Jessica Dawson, Phelelani Mpangase, Marc Hauptfleisch, Gail Scher, Odirile Tabane, Marelize Immelman, Michael Urban, Amanda Krause
Eur J Hum Genet. 2025 Jan; 33(1): 14–23. Published online 2024 Jun 1. doi: 10.1038/s41431-024-01644-5
PMCID:
PMC11711498
13.
Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj
Orphanet J Rare Dis. 2024; 19: 496. Published online 2024 Dec 30. doi: 10.1186/s13023-024-03486-2
PMCID:
PMC11684101
14.
Olga I. Bolshakova, Evgenia M. Latypova, Artem E. Komissarov, Alexandra D. Slobodina, Elena V. Ryabova, Elena Yu. Varfolomeeva, Olga E. Agranovich, Sergey F. Batkin, Svetlana V. Sarantseva
Int J Mol Sci. 2024 Dec; 25(24): 13379. Published online 2024 Dec 13. doi: 10.3390/ijms252413379
PMCID:
PMC11676324
15.
Åsa Bartonek, Marie Eriksson
Children (Basel) 2024 Dec; 11(12): 1480. Published online 2024 Dec 3. doi: 10.3390/children11121480
PMCID:
PMC11674846
16.
Aurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, Céline Tard, Corinne Metay, Anne Bergougnoux, Charles Van Goethem, Corinne Thèze, Marion Larrieux, Héloise Faure-Gautron, Jocelyn Laporte, Guillaume Lefebvre, Martin Krahn, Raul Juntas-Morales, Titin’s Network Collaborators, Michel Koenig, Susana Quijano-Roy, Robert-Yves Carlier, Mireille Cossée
Int J Mol Sci. 2024 Dec; 25(23): 12994. Published online 2024 Dec 3. doi: 10.3390/ijms252312994
PMCID:
PMC11641062
17.
Vasundhara Tamhankar, Smit J Patel, Tushar Kachhadiya, Shalin Vaniawala, Jayeshkumar Patel, Rajesh Bhammar, Shwetal Patel, Salil Vaniawala, Pramila Menon, Parag M Tamhankar
Cureus. 2024 Nov; 16(11): e73252. Published online 2024 Nov 7. doi: 10.7759/cureus.73252
PMCID:
PMC11625094
18.
Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, Sachiko Miyamoto, Mitsuko Nakashima, Hirotomo Saitsu
Mol Genet Genomic Med. 2024 Dec; 12(12): e70037. Published online 2024 Dec 2. doi: 10.1002/mgg3.70037
PMCID:
PMC11610623
19.
Nina Berger, Hans Forkl, Bernhard Heimkes, Vincent Frimberger, Ferdinand Wagner, Frank Hildebrand, Heide Delbrück
J Orthop Surg Res. 2024; 19: 595. Published online 2024 Sep 28. doi: 10.1186/s13018-024-05101-3
PMCID:
PMC11437879
20.
Liang Zhu, Longlong Zhang, Jingmei Cha, Chaocui Li, Bingyu Mao
Genes (Basel) 2024 Sep; 15(9): 1134. Published online 2024 Aug 28. doi: 10.3390/genes15091134
PMCID:
PMC11431781

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