Zobrazeno 1 - 10
of 59 148
pro vyhledávání: '"EXOME SEQUENCING"'
Autor:
Wenderholm K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Arens M; Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Martens E; Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Winkelmann J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany., Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany; Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Germany. Electronic address: dominik.westphal@mri.tum.de.
Publikováno v:
Gene [Gene] 2025 Jan 30; Vol. 935, pp. 149063. Date of Electronic Publication: 2024 Oct 30.
Autor:
Qin L; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Jia Y; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Wang H; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Feng Y; Union Precision Medical Diagnostics Co., Ltd, Tianjin, China., Zou J; Union Precision Medical Diagnostics Co., Ltd, Tianjin, China., Zhou J; Tianjin Kingmed Center for Clinical Laboratory, Tianjin, China., Yu C; Tianjin Kingmed Center for Clinical Laboratory, Tianjin, China; Key Laboratory of Multi-Omics Precision Diagnosis Technology for Neurological Diseases, Tianjin, China., Huang B; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Zhang R; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Shi L; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Xiao J; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Zhao Y; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Sun Q; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Xiao Z; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China., Wang H; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China. Electronic address: wanghuijun@ihcams.ac.cn.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2025 Jan 15; Vol. 565, pp. 119989. Date of Electronic Publication: 2024 Oct 06.
Autor:
Paul A D; Department of Anatomy, Yenepoya Medical College, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India; Department of Anatomy, Father Muller Medical College, Kankanady, Mangalore, Karnataka 575002, India. Electronic address: divia_manoj@yahoo.com., Prabhu A; Yenepoya Research Centre, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India. Electronic address: ashwiniprabhu@yenepoya.edu.in., S N; Department of Anatomy, Yenepoya Medical College, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India. Electronic address: nidhi0211@yahoo.com., Thomas M R; Department of Surgical Oncology, Yenepoya Medical College Hospital, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India. Electronic address: rohanthomas@gmail.com., Shetty R; Department of Surgical Oncology, Yenepoya Medical College Hospital, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India. Electronic address: shettyrohan@rediffmail.com., Umesh Shenoy P; Yenepoya Research Centre, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India. Electronic address: poojagulvadi96@gmail.com., Das R; Yenepoya Research Centre, Yenepoya (Deemed to be University), Deralakatte, Mangalore, Karnataka 575018, India. Electronic address: das.ranajit@gmail.com.
Publikováno v:
Gene [Gene] 2025 Jan 15; Vol. 933, pp. 148947. Date of Electronic Publication: 2024 Sep 13.
Autor:
Bouzid A; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia. abouzid@sharjah.ac.ae.; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates. abouzid@sharjah.ac.ae., Belcadhi M; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia.; Department of Otorhinolaryngology, Farhat Hached University Hospital, Sousse, Tunisia., Souissi A; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia., Chelly M; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia.; Department of Engineering, University of Messina, C.da Di Dio, I-98166, Messina, Italy., Frikha F; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia.; Faculty of Sciences of Sfax, Department of Biology, University of Sfax, Sfax, Tunisia., Gargouri H; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia., Bonnet C; Université Paris Cité, Institut Pasteur, AP-HP, Inserm, Fondation Pour l'Audition, Institut de l'Audition, IHU reConnect, Paris, F-75012, France., Jebali F; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia., Loukil S; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia., Petit C; Université Paris Cité, Institut Pasteur, AP-HP, Inserm, Fondation Pour l'Audition, Institut de l'Audition, IHU reConnect, Paris, F-75012, France.; Collège de France, Paris, F-75005, France., Masmoudi S; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia., Hamoudi R; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates. rhamoudi@sharjah.ac.ae.; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates. rhamoudi@sharjah.ac.ae.; Division of Surgery and Interventional Science, University College London, London, UK. rhamoudi@sharjah.ac.ae.; ASPIRE Precision Medicine Research Institute Abu Dhabi, University of Sharjah, Sharjah, United Arab Emirates. rhamoudi@sharjah.ac.ae.; BIMAI-Lab, Biomedically Informed Artificial Intelligence Laboratory, University of Sharjah, Sharjah, United Arab Emirates. rhamoudi@sharjah.ac.ae., Ben Said M; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia. mariem.bensaid@cbs.rnrt.tn.
Publikováno v:
Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 367. Date of Electronic Publication: 2025 Jan 02.
Autor:
Hashmi JA; Center for Genetics and Inherited Diseases, Taibah University Medina, Madinah, Kingdom of Saudi Arabia.; Department of Basic Medical Sciences, College of Medicine, Taibah University Medina, Madinah, Kingdom of Saudi Arabia., Afzal S; Department of Immunology, College of Medicine, King Saud University Riyadh, Riyadh, Kingdom of Saudi Arabia., Balahmar RM; Center for Genetics and Inherited Diseases, Taibah University Medina, Madinah, Kingdom of Saudi Arabia., Latif M; Center for Genetics and Inherited Diseases, Taibah University Medina, Madinah, Kingdom of Saudi Arabia.; Department of Basic Medical Sciences, College of Medicine, Taibah University Medina, Madinah, Kingdom of Saudi Arabia., Basit S; Center for Genetics and Inherited Diseases, Taibah University Medina, Madinah, Kingdom of Saudi Arabia.; Department of Basic Medical Sciences, College of Medicine, Taibah University Medina, Madinah, Kingdom of Saudi Arabia.
Publikováno v:
Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2025 Jan; Vol. 30 (1), pp. e14423.
Autor:
Pan Y; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Mo J; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Ren S; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Zhang Y; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Zhang F; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Zhang X; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China., Wu Y; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China.
Publikováno v:
Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 117-119. Date of Electronic Publication: 2024 Oct 27.
Autor:
Hiltebeitel LR; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Seltzsam S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Wang C; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Lee T; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Bolsius L; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Shalaby M; Pediatric Nephrology Centre of Excellence, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., El Desoky S; Pediatric Nephrology Centre of Excellence, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Kari JA; Pediatric Nephrology Centre of Excellence, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Shril S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States., Mann N; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63859. Date of Electronic Publication: 2024 Sep 04.
Autor:
Praditsap O; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Ahsan NF; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Immunology Graduate Program, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Nettuwakul C; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Sawasdee N; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Sritippayawan S; Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Yenchitsomanus PT; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Rungroj N; Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand. nanyawan.run@mahidol.ac.th.
Publikováno v:
Urolithiasis [Urolithiasis] 2024 Dec 16; Vol. 53 (1), pp. 7. Date of Electronic Publication: 2024 Dec 16.
Autor:
Henarejos-Castillo I; IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain.; Department of Pediatrics, Obstetrics and Gynaecology, University of Valencia, Av. Blasco Ibáñez 15, Valencia, 46010, Spain., Sanz FJ; IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain.; Department of Genetics, Biotechnology and Biomedicine Institute (BioTecMed), University of Valencia, C. Dr. Moliner, 50, Burjassot, 46100, Spain., Solana-Manrique C; Department of Genetics, Biotechnology and Biomedicine Institute (BioTecMed), University of Valencia, C. Dr. Moliner, 50, Burjassot, 46100, Spain.; Department of Physiotherapy, Faculty of Health Sciences, European University of Valencia, Passeig de l'Albereda, 7, Valencia, 46010, Spain., Sebastian-Leon P; IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain., Medina I; High-Performance Computing Service, University of Cambridge, 7 JJ Thomson Ave, Cambridge, CB3 0RB, UK., Remohi J; IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain.; Department of Pediatrics, Obstetrics and Gynaecology, University of Valencia, Av. Blasco Ibáñez 15, Valencia, 46010, Spain., Paricio N; Department of Genetics, Biotechnology and Biomedicine Institute (BioTecMed), University of Valencia, C. Dr. Moliner, 50, Burjassot, 46100, Spain., Diaz-Gimeno P; IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain. patricia.diaz@ivirma.com.; Department of Genomic & Systems Reproductive Medicine, IVI Foundation, Valencia, Spain - Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Torre A, Planta 1ª, Valencia, 46026, Spain. patricia.diaz@ivirma.com.
Publikováno v:
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Dec 04; Vol. 22 (1), pp. 153. Date of Electronic Publication: 2024 Dec 04.
Autor:
Olgun Çelebioğlu HB; Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkiye; Istanbul University, Institute of Graduate Studies in Health Sciences, Istanbul, Turkiye, Öztürk AP; Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul, Turkiye, Poyrazoğlu Ş; Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul, Turkiye, Tuncer FN; Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkiye
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Dec 04; Vol. 16 (4), pp. 450-457. Date of Electronic Publication: 2024 Jun 25.