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K

Kevin J. Munro

The University of Manchester
H指数:46
被引数:8,456

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
OAAI
Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G.
Timing of Primary Surgery for Cleft Palate
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2023-08-3117
OA
Gamble, Carrol; Persson, Christina; Willadsen, Elisabeth; Albery, Liz; Andersen, Helene Soegaard; Antoneli, Melissa Zattoni; Appelqvist, Malin; Aukner, Ragnhild; Bodling, Pia; Bowden, Melanie; Brunnegard, Karin; Cairns, Gillian; Calladine, Samantha; Campbell, Linsay; Clayton-Smith, Jill; Cooper, Rachael; Conroy, Elizabeth; El-Angbawi, Ahmed; Emborg, Berit Kildegaard; Wikman, Josefin Enfalt; Fitzpatrick, Beth; Fukushiro, Ana Paula; de Azevedo Bento Goncalves, Cristina Guedes; Havstam, Christina; Hvistendahl, Anne Katherine; Jorgensen, Line Dahl; Klinto, Kristina; Kvinnsland, Marit Berntsen; Larham, Catriona; Lemvik, Jorunn; Leturgie, Louise; Liljerehn, Eva; Lodge, Natalie; Lohmander, Anette; McMahon, Siobhan; Mehendale, Felicity; Miguel, Haline Coracine; Moe, Marianne; Nielsen, Joan Bogh; Nyberg, Jill; Pedersen, Nina-Helen; Phippen, Ginette; Alvarez Piazentin-Penna, Silvia Helena; Patrick, Kathryn; Pliskin, Lindsay; Rigby, Lucy; Semb, Gunvor; Southby, Lucy; Sporre, Maria; Taleman, Ann-Sofie Bjorkman; Tangstad, Jorid; Kiemle Trindade, Inge Elly; Underwood, Imogen; van Eeden, Stephanie; Westberg, Liisi Raud; Williamson, Paula Ruth; Yamashita, Renata Paciello; Munro, Kevin; Walsh, Tanya; Shaw, William

研究方向

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