Zobrazeno 1 - 10
of 27 831
pro vyhledávání: '"Genetic diseases-inborn"'
Autor:
Kobayashi Y; Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, California., Chen E; Invitae Corporation (now part of Labcorp Genetics), San Francisco, California.; Now with Midi Health, Los Altos Hills, California., Facio FM; Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, California., Metz H; Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, California., Poll SR; Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, California., Swartzlander D; Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, California., Johnson B; Invitae Corporation (now part of Labcorp Genetics), San Francisco, California.; Now with GeneDx, Stamford, Connecticut., Aradhya S; Invitae Corporation (now part of Labcorp Genetics), San Francisco, California.; Now with Illumina, San Diego, California.; Department of Pathology, Stanford University, Stanford, California.
Publikováno v:
JAMA network open [JAMA Netw Open] 2024 Nov 04; Vol. 7 (11), pp. e2444526. Date of Electronic Publication: 2024 Nov 04.
Autor:
Jeffreys N; Blood and Marrow Transplant Programme, Royal Manchester Children's Hospital, Manchester, UK., Wynn R; Blood and Marrow Transplant Programme, Royal Manchester Children's Hospital, Manchester, UK. Electronic address: robert.wynn@mft.nhs.uk.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Oct 02; Vol. 32 (10), pp. 3201-3202. Date of Electronic Publication: 2024 Sep 17.
Autor:
de Morais CCPL; Cell Processing Center/Umbilical and Placental Cord Blood Bank (CPC/BSCUP), Bone Marrow Transplant Center (CEMO), National Cancer Institute (INCA), Rio de Janeiro, Brazil.; Oswaldo Cruz Foundation (FIOCRUZ), National Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF), Rio de Janeiro, Brazil., Correia EM; Cell and Gene Therapy Program, Research Coordination, National Cancer Institute (INCA), Rio de Janeiro, Brazil., Bonamino MH; Cell and Gene Therapy Program, Research Coordination, National Cancer Institute (INCA), Rio de Janeiro, Brazil., Vasconcelos ZFM; Oswaldo Cruz Foundation (FIOCRUZ), National Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF), Rio de Janeiro, Brazil.
Publikováno v:
Human gene therapy [Hum Gene Ther] 2024 Oct; Vol. 35 (19-20), pp. 781-797.
Autor:
Naritomi K; Emeritus Professor, University of the Ryukyus Okinawa Nanbu Ryouiku Iryou Center, 2-3-1 Yorimiya, Naha, Okinawa, 902-0064, Japan. naritomi@med.u-ryukyu.ac.jp.
Publikováno v:
Journal of human genetics [J Hum Genet] 2024 Oct; Vol. 69 (10), pp. 527-531. Date of Electronic Publication: 2024 Jul 31.
Publikováno v:
Fertility and sterility [Fertil Steril] 2024 Oct; Vol. 122 (4), pp. 607-611. Date of Electronic Publication: 2024 Jun 29.
Autor:
Atik T; Pediatric Genetics, Ege University, Izmir, Turkey., Avci Durmusalioglu E; Pediatric Genetics, Ege University, Izmir, Turkey. eniseavci.ea@gmail.com., Isik E; Pediatric Genetics, Ege University, Izmir, Turkey., Kose M; Department of Genetics, The Children Hospital of Philadelphia, Mitochondrial Medicine Frontier Program, Philadelphia, USA., Kanmaz S; Pediatric Neurology, Ege University, Izmir, Turkey., Aykut A; Medical Genetics, Ege University, Izmir, Turkey., Durmaz A; Medical Genetics, Ege University, Izmir, Turkey., Ozkinay F; Pediatric Genetics, Ege University, Izmir, Turkey., Cogulu O; Pediatric Genetics, Ege University, Izmir, Turkey.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2024 Sep 30; Vol. 17 (1), pp. 239. Date of Electronic Publication: 2024 Sep 30.
Autor:
Jaramillo Oquendo C; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Wai HA; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Rich WI; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Bunyan DJ; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury, UK., Thomas NS; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury, UK., Hunt D; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Lord J; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK., Douglas AGL; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Baralle D; Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK. d.baralle@soton.ac.uk.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.
Publikováno v:
Genome medicine [Genome Med] 2024 Sep 09; Vol. 16 (1), pp. 110. Date of Electronic Publication: 2024 Sep 09.
Autor:
Cetin B; Department of Gene and Cell Therapy, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Erendor F; Department of Gene and Cell Therapy, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Eksi YE; Department of Gene and Cell Therapy, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Sanlioglu AD; Department of Gene and Cell Therapy, Faculty of Medicine, Akdeniz University, Antalya, Turkey., Sanlioglu S; Department of Gene and Cell Therapy, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
Publikováno v:
Journal of cellular and molecular medicine [J Cell Mol Med] 2024 Sep; Vol. 28 (17), pp. e70056.
Autor:
McNeill A; Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK. a.mcneill@sheffield.ac.uk.; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. a.mcneill@sheffield.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1033-1034.
Autor:
Zhang L; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China., Shen M; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China., Shu X; Department of Echocardiography, Zhongshan Hospital, Shanghai Institute of Cardiovascular Diseases, Shanghai Institute of Medical Imaging, Fudan University, Shanghai, China., Zhou J; Department of Cardiology Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital, Fudan University, Shanghai, China., Ding J; Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China., Lin H; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China., Pan B; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China., Zhang C; Department of Laboratory Medicine, Shanghai Geriatric Medical Center, Shanghai, China., Wang B; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China. wang.beili1@zs-hospital.sh.cn., Guo W; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China. guo.wei@zs-hospital.sh.cn.
Publikováno v:
Journal of human genetics [J Hum Genet] 2024 Sep; Vol. 69 (9), pp. 425-431. Date of Electronic Publication: 2024 Jun 06.