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Items: 1 to 20 of 500

1.
Saima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, Shaheen N Khan, Idrees Nasir, Uzma Shaukat, Sheikh Riazuddin, John A Butman, Andrew J Griffith, Thomas B Friedman, Byung Yoon Choi
BMC Med Genet. 2011; 12: 21. Published online 2011 Feb 9. doi: 10.1186/1471-2350-12-21
PMCID:
PMC3042908
2.
Amina Al Yassin, Felice D’Arco, Matías Morín, Waheeda Pagarkar, Katherine Harrop-Griffiths, Azhar Shaida, Elena Fernández, Tom Cullup, Bianca De-Souza, Miguel Angel Moreno-Pelayo, Maria Bitner-Glindzicz
Genes (Basel) 2019 Jul; 10(7): 529. Published online 2019 Jul 12. doi: 10.3390/genes10070529
PMCID:
PMC6678228
3.
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
Eur J Hum Genet. 2024 May; 32(5): 479–488. Published online 2024 Mar 5. doi: 10.1038/s41431-023-01507-5
PMCID:
PMC11061103
4.
Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen
Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416
PMCID:
PMC11019983
5.
Fereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi, Mojgan Babanejad
Mol Genet Genomic Med. 2023 May; 11(5): e2168. Published online 2023 Mar 19. doi: 10.1002/mgg3.2168
PMCID:
PMC10178790
6.
Meenakshi Lallar, Veronica Arora, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma
J Pediatr Genet. 2021 Mar; 10(1): 70–73. Published online 2020 Mar 9. doi: 10.1055/s-0040-1708052
PMCID:
PMC7853916
7.
Margarita Raygada, Liny John, Anne Liu, Julianne Schultz, B. J. Thomas, Donna Bernstein, Markku Miettinen, Mark Raffeld, Liqiang Xi, Manoj Tyagi, Kenneth Aldape, John Glod, Karlyne M. Reilly, Brigitte C. Widemann, Mary Frances Wedekind
J Cancer Res Clin Oncol. 2024; 150(5): 227. Published online 2024 May 3. doi: 10.1007/s00432-024-05706-5
PMCID:
PMC11068663
8.
Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1711–1721. Published online 2023 Apr 5. doi: 10.1002/ajmg.a.63192
PMCID:
PMC11068498
9.
Céline Petitgas, Laurent Seugnet, Amina Dulac, Giorgio Matassi, Ali Mteyrek, Rebecca Fima, Marion Strehaiano, Joana Dagorret, Baya Chérif-Zahar, Sandrine Marie, Irène Ceballos-Picot, Serge Birman
eLife. 2024; 12: RP88510. Published online 2024 May 3. doi: 10.7554/eLife.88510
PMCID:
PMC11068357
10.
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
11.
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, RFC1 repeat expansion study group , Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andrea Cortese
Brain. 2024 May; 147(5): 1887–1898. Published online 2024 Jan 9. doi: 10.1093/brain/awad436
PMCID:
PMC11068103
12.
Nitin Khandelwal, Ashwinikumar Kulkarni, Newaz I. Ahmed, Matthew Harper, Genevieve Konopka, Jay R. Gibson
Sci Adv. 2024 May 3; 10(18): eadm7039. Published online 2024 May 3. doi: 10.1126/sciadv.adm7039
PMCID:
PMC11068015
13.
Iman Almansour, B. Rabindran Jermy
Hum Vaccin Immunother. 2024; 20(1): 2346390. Published online 2024 May 1. doi: 10.1080/21645515.2024.2346390
PMCID:
PMC11067998
14.
Karan K. Smith, Jesse D. Moreira, Callum R. Wilson, June O. Padera, Ashlee N. Lamason, Liying Xue, Deepa M. Gopal, David B. Flynn, Jessica L. Fetterman
Genome Res. 2024 Mar; 34(3): 341–365. doi: 10.1101/gr.278200.123
PMCID:
PMC11067886
15.
Abdullah Alshammari, Jawaher Alotaibi, Reem Almaghrabi, Reema Bawazeer, Sahar Althawadi, Hamsa Tayeb
Virol J. 2024; 21: 102. Published online 2024 May 2. doi: 10.1186/s12985-024-02372-4
PMCID:
PMC11067097
16.
Rebecca Siu Ga Tan, Christy Hui Lin Lee, Wanling Pan, Serene Wohlgemuth, Michael R. Doschak, R. Todd Alexander
Physiol Rep. 2024 May; 12(9): e15977. Published online 2024 May 2. doi: 10.14814/phy2.15977
PMCID:
PMC11065693
17.
Mahamadou D. Camara, Yitian Zhou, Antoine Dara, Mamadou M. Tékété, Taís Nóbrega de Sousa, Sékou Sissoko, Laurent Dembélé, Nouhoun Ouologuem, Amadou Hamidou Togo, Mohamed L. Alhousseini, Bakary Fofana, Issaka Sagara, Abdoulaye A. Djimde, Pedro J. Gil, Volker M. Lauschke
Antimicrob Agents Chemother. 2024 May; 68(5): e01390-23. Published online 2024 Mar 28. doi: 10.1128/aac.01390-23
PMCID:
PMC11064487
18.
Seung-Yon Lee, Francesca Fontana, Toshifumi Sugatani, Ignacio Portales Castillo, Giulia Leanza, Ariella Coler-Reilly, Roberto Civitelli
JCI Insight. 2024 Mar 22; 9(6): e170016. Published online 2024 Feb 13. doi: 10.1172/jci.insight.170016
PMCID:
PMC11063945
19.
Roberto Silva-Rojas, Laura Pérez-Guàrdia, Alix Simon, Sarah Djeddi, Susan Treves, Agnès Ribes, Lorenzo Silva-Hernández, Céline Tard, Jocelyn Laporte, Johann Böhm
JCI Insight. 2024 Mar 22; 9(6): e174866. Published online 2024 Mar 22. doi: 10.1172/jci.insight.174866
PMCID:
PMC11063934
20.
Avinaash V. Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G. Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S. Brooks, Gabriel Amador Aguirre, Irene Martín del Estal, María Inmaculada Castilla de Cortázar Larrea, Ahmed Massoud, Hermine A. van Duyvenvoorde, Christiaan De Bruin, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L. Storr
JCI Insight. 2024 Mar 22; 9(6): e169425. Published online 2024 Mar 22. doi: 10.1172/jci.insight.169425
PMCID:
PMC11063932

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