Zobrazeno 1 - 10
of 12 377
pro vyhledávání: '"Codon nonsense"'
Autor:
Wang SJ; Department of Genetic Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang330006, China., Yu JH; Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang330006, China., Jiang ZH; Jiangxi Provincial Key Laboratory of Molecular Medicine, Nanchang330006, China., Shen Y; Department of Genetic Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang330006, China., Hong K; Department of Genetic Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang330006, China.
Publikováno v:
Zhonghua xin xue guan bing za zhi [Zhonghua Xin Xue Guan Bing Za Zhi] 2024 Dec 24; Vol. 52 (12), pp. 1417-1419.
Autor:
Foncuberta ME; Laboratorio de Biología Molecular - Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina. Electronic address: mfoncuberta@garrahan.gov.ar., Monges S; Servicio de Neurología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Medina A; Laboratorio Biología Molecular - Hematogía y Oncología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Lubieniecki F; Servicio de Patología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Gravina LP; Laboratorio de Biología Molecular - Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Publikováno v:
Gene [Gene] 2024 Dec 20; Vol. 930, pp. 148862. Date of Electronic Publication: 2024 Aug 14.
Autor:
Fiduccia I; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Corrao F; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Zizzo MG; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Perriera R; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy; Department of Research, IRCCS ISMETT (Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione), Via E. Tricomi 5, 90127 Palermo, Italy., Genovese F; Department of Diagnostic Laboratory, U.O.C. of Pathological Anatomy, 'G.F. Ingrassia' Hospital, ASP Palermo, Palermo, Italy., Vitale E; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Ricci D; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Melfi R; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Tutone M; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Pace A; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy., Lentini L; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy. Electronic address: laura.lentini@unipa.it., Pibiri I; Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy. Electronic address: ivana.pibiri@unipa.it.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Dec 04; Vol. 32 (12), pp. 4514-4523. Date of Electronic Publication: 2024 Oct 28.
Autor:
Chen Y; Center for Laboratory Medicine, Sichuan Tianfu New Area People's Hospital, Chengdu., Zeng M; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Zhang K; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Ye L; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Jiang S; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Jia K; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Yang L; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Wang M; Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Publikováno v:
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2024 Dec 01; Vol. 35 (8), pp. 372-378. Date of Electronic Publication: 2024 Nov 08.
Autor:
Hrvatin N; Clinical Hospital Centre Rijeka, Rijeka, Croatia., Pereza N; Faculty of Medicine, Department of Medical Biology and Genetics, University of Rijeka, Rijeka, Croatia., Čaljkušić-Mance T; Clinics for Ophthalmology, Clinical Hospital Centre Rijeka, Rijeka, Croatia.; Faculty of Medicine, Department of Ophthalmology, University of Rijeka, Rijeka, Croatia., Vučerić TM; Clinics for Ophthalmology, Clinical Hospital Centre Rijeka, Rijeka, Croatia.; Faculty of Medicine, Department of Ophthalmology, University of Rijeka, Rijeka, Croatia., Ostojić S; Faculty of Medicine, Department of Medical Biology and Genetics, University of Rijeka, Rijeka, Croatia., Hodžić A; Clinical Institute for Genomic Medicine, University Hospital Centre Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute for Genomic Medicine, University Hospital Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute for Genomic Medicine, University Hospital Centre Ljubljana, Ljubljana, Slovenia.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 786-787. Date of Electronic Publication: 2024 Sep 30.
Autor:
Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Elhady GM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Abd Elmaksoud M; Neurology Unit, Pediatric Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Ryu SW; 3billion Inc., Seoul, South Korea., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.
Publikováno v:
Journal of human genetics [J Hum Genet] 2024 Dec; Vol. 69 (12), pp. 623-628. Date of Electronic Publication: 2024 Jul 31.
Autor:
Fang Q; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China., Ran L; Center for Genetics, National Research Institute for Family Planning, Beijing, China.; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Bi X; Center for Genetics, National Research Institute for Family Planning, Beijing, China.; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Di J; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China., Liu Y; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China., Xu F; Department of Reproduction, Tianjin First Central Hospital, Tianjin, China. xufengqin1968@126.com., Wang B; Center for Genetics, National Research Institute for Family Planning, Beijing, China. wbbahu@163.com.; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. wbbahu@163.com.; NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP), Beijing, China. wbbahu@163.com.
Publikováno v:
Journal of human genetics [J Hum Genet] 2024 Dec; Vol. 69 (12), pp. 675-677. Date of Electronic Publication: 2024 Aug 19.
Autor:
Hauser BM; Harvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA., Place E; Harvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA., Huckfeldt R; Harvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA., Vavvas DG; Harvard Medical School Department of Ophthalmology, Retina Service, Massachusetts Eye and Ear, Boston, Massachusetts, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 640-645. Date of Electronic Publication: 2024 Aug 15.
Autor:
Peng Y; Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China., Pan M; Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China., Wang Y; Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China., Shen Z; Department of Medical Genetics, Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China., Xu J; Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China., Xiong F; Department of Medical Genetics, Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong, China.; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China., Xiao H; Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China., Miao Y; Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Publikováno v:
Renal failure [Ren Fail] 2024 Dec; Vol. 46 (2), pp. 2362391. Date of Electronic Publication: 2024 Jun 07.