Zobrazeno 1 - 10
of 82 722
pro vyhledávání: '"Abnormalities, Multiple"'
Autor:
Fujii T; Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan., Liang L; Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan., Nakayama K; Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan., Katoh Y; Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Aug 06; Vol. 33 (16), pp. 1442-1453.
Autor:
Wu R; Department of Children's Neuroendocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.; Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China., Tang W; Department of Research and Molecular Diagnostics, Sun Yat-sen University Cancer Center, Sun Yat-sen University, Guangzhou, Guangdong, China., Li P; Department of Children's Neuroendocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.; Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China., Meng Z; Department of Children's Neuroendocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.; Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China., Li X; Department of Cellular and Molecular Diagnostics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China., Liang L; Department of Children's Neuroendocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.; Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63626. Date of Electronic Publication: 2024 Apr 09.
Autor:
Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Department of Computer, Control and Management Engineering, Sapienza University, 00185, Rome, Italy., Pedace L; Department of Pediatric Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy., Cappelletti C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Nardini C; Department of Pediatric Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy., Hildonen M; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshopsitalet, 2600, Glostrup, Denmark., Chiriatti L; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Miele E; Department of Pediatric Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy., Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Cesario C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Pisaneschi E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Baban A; Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Maitz S; Genetica Clinica Pediatrica, Fondazione MBBM, ASST Monza Ospedale San Gerardo, 20900, Monza, Italy., Selicorni A; Pediatria, Ospedale Sant'Anna, ASST Lariana, 22100, Como, Italy., Squeo GM; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy., Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131, Naples, Italy., Dallapiccola B; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Tumer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshopsitalet, 2600, Glostrup, Denmark.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, 2200, Copenhagen, Denmark., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Priolo M; Medical and Laboratory Genetics, Antonio Cardarelli Hospital, 80131, Naples, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 819-826. Date of Electronic Publication: 2024 Mar 25.
Autor:
Barrios L; University of California-Davis, Davis, California, USA., Chamlin S; Department of Dermatology, Ann & Robert H. Lurie Children's Hospital, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Keppler-Noreuil KM; Department of Pediatrics, Division of Genetics & Metabolism, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Rialon KL; Department of Surgery, Division of Pediatric Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA., Austin P; Department of Urology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA., Alhajjat A; Department of Surgery, Ann & Robert H. Lurie Children's Hospital, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Bowen D; Department of Urology, Ann & Robert H. Lurie Children's Hospital, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA., Metry DW; Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA., Siegel DH; Department of Dermatology, and by Courtesy, Pediatrics, Stanford University, School of Medicine, Palo Alto, California, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63582. Date of Electronic Publication: 2024 Mar 07.
Autor:
Sithambaram S; Manchester Universities Hospital, NHS Foundation Trust, Manchester, UK., Jacob P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Neethukrishna K; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Shah H; Department of Pediatric Orthopaedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63566. Date of Electronic Publication: 2024 Feb 15.
Autor:
Gangaram B; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California, USA., Lee V; Division of Child Neurology, University of California, San Francisco, California, USA., Slavotinek A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63567. Date of Electronic Publication: 2024 Feb 22.
Autor:
Gao CW; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Lin W; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, United States of America., Chopra S; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Kim J; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, United States of America., Hansen KD; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, United States of America.; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Björnsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Faculty of Medicine, University of Iceland, Reykjavík, Iceland.; Landspítali University Hospital, Reykjavík, Iceland., Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Publikováno v:
PLoS genetics [PLoS Genet] 2024 Jun 10; Vol. 20 (6), pp. e1011310. Date of Electronic Publication: 2024 Jun 10 (Print Publication: 2024).
Autor:
Kolokotronis K; Institute of Medical Genetics, University of Zurich, Switzerland. Electronic address: konstantinos.kolokotronis@medgen.uzh.ch., Suter AA; Institute of Medical Genetics, University of Zurich, Switzerland., Ivanovski I; Institute of Medical Genetics, University of Zurich, Switzerland., Frey T; Institute of Medical Genetics, University of Zurich, Switzerland., Bahr A; Institute of Medical Genetics, University of Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Switzerland; Pediatric Hospital, University of Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Switzerland.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104945. Date of Electronic Publication: 2024 Apr 30.
Autor:
Alharbi R; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France; Department of Genetics, Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia., Suchet-Dechaud A; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France., Harzallah I; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France., Touraine R; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France., Ramond F; Service de Génétique, Hôpital Nord, CHU Saint-Etienne, Saint-Etienne, France. Electronic address: francis.ramond@chu-st-etienne.fr.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104948. Date of Electronic Publication: 2024 May 10.
Autor:
Vaclavik V; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland. veronika.vaclavik@fa2.ch.; Department of Ophthalmology, Hospital Cantonal, Fribourg, Switzerland. veronika.vaclavik@fa2.ch., Navarro A; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Jacot-Guillarmod A; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland., Sun YJ; Molecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA., Franco JA; Molecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA., Mahajan VB; Molecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.; Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, USA., Smirnov V; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lilles, 59000, France.; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Lille, F-59000, France., Bouvet-Drumare I; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lilles, 59000, France.
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Jun; Vol. 262 (6), pp. 1737-1744. Date of Electronic Publication: 2024 Jan 11.