Zobrazeno 1 - 10
of 3 316
pro vyhledávání: '"Undiagnosed"'
Autor:
Agimas MC; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Derseh NM; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Mamo F; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Abebe MT; Department of Nursing, College of Health Science, Debark University, Debark, Ethiopia., Yemanu T; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia., Asmamaw M; Department of Epidemiology and Biostatistics, Institute of Public Health, College of Medicine and Health Science, University of Gondar, Gondar, Ethiopia.
Publikováno v:
PloS one [PLoS One] 2024 Aug 23; Vol. 19 (8), pp. e0303940. Date of Electronic Publication: 2024 Aug 23 (Print Publication: 2024).
Autor:
Siebold D; University of Alabama (UAB), School of Health Professions, Birmingham, Alabama, USA., Denton J; University of Alabama (UAB), School of Health Professions, Birmingham, Alabama, USA., Hurst ACE; UAB Department of Genetics, Birmingham, Alabama, USA., Moss I; UAB Department of Genetics, Birmingham, Alabama, USA., Korf B; UAB Department of Genetics, Birmingham, Alabama, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 131-140. Date of Electronic Publication: 2023 Sep 26.
Autor:
Moynihan D; Curtin University, Perth, Australia., Monaco S; Health Catalyst, Utah, USA., Ting TW; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Narasimhalu K; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Department of Neurology, National Neuroscience Institute (Singapore General Hospital), Singapore, Singapore., Hsieh J; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; Department of Internal Medicine, Singapore General Hospital, Singapore, Singapore., Kam S; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Lim WK; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; Laboratory of Genome Variation Analytics, Genome Institute of Singapore, Singapore, Singapore., Davila S; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Bylstra Y; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Balakrishnan ID; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; National Heart Centre Singapore, Singapore, Singapore., Heng M; SingHealth Office of Insights and Analytics, Singapore, Singapore., Chia E; SingHealth Office of Insights and Analytics, Singapore, Singapore., Yeo KK; National Heart Centre Singapore, Singapore, Singapore., Goh BK; Data Analytics Office, KK Women's and Children's Hospital, Singapore, Singapore., Gupta R; Curtin University, Perth, Australia., Tan T; Curtin University, Perth, Australia., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, Perth, WA, Australia., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. saumya.s.jamuar@singhealth.com.sg.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore. saumya.s.jamuar@singhealth.com.sg.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore. saumya.s.jamuar@singhealth.com.sg.
Publikováno v:
Scientific reports [Sci Rep] 2024 Mar 01; Vol. 14 (1), pp. 5056. Date of Electronic Publication: 2024 Mar 01.
Autor:
Curic E; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia., Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia. Elizabeth.palmer@unsw.edu.au.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia. Elizabeth.palmer@unsw.edu.au.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 09; Vol. 18 (1), pp. 348. Date of Electronic Publication: 2023 Nov 09.
Autor:
Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Loydpierson A; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; University of North Carolina School of Medicine, Chapel Hill, NC, United States of America., Latour YL; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, United States of America; Department of Pathology, Immunology, and Microbiology, Vanderbilt University, Nashville, TN, United States of America., D'Souza P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia., Murphy J; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia., Wolfe L; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Estwick T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States of America., Johnston JM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Yang J; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Acosta MT; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Lee PR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Division of Neurology 2, Office of Neuroscience, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, United States of America., Pierson TM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Departments of Pediatrics and Neurology & The Board of Governors, Regenerative Medicine Institute and the Cedars Sinai Center for the Undiagnosed Patient, Cedars Sinai Medical Center, Los Angeles, CA, United States of America., Soldatos A; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, United States of America., Toro C; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Markello T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Adams DR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America., Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America., Yousef M; National Institutes of Health Clinical Center, Department of Perioperative Medicine, Pediatric Anesthesiology, Bethesda, MD, United States of America., Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America. Electronic address: cynthiat@mail.nih.gov.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107707. Date of Electronic Publication: 2023 Oct 10.
Autor:
Kindratt TB; Public Health Program, Department of Kinesiology, College of Nursing and Health Innovation, University of Texas at Arlington, 500 West Nedderman Drive, Arlington, TX, 76019, USA. tiffany.kindratt@uta.edu., Ajrouch KJ; Department of Sociology, Anthropology and Criminology, Eastern Michigan University, 712 Pray-Harrold, Ypsilanti, MI, 48197, USA.; Institute for Social Research, University of Michigan, 426 Thompson Street, Ann Arbor, MI, 48104, USA., Zahodne LB; Institute for Social Research, University of Michigan, 426 Thompson Street, Ann Arbor, MI, 48104, USA.; Department of Psychology, University of Michigan, 530 Church St., Ann Arbor, MI, 48109, USA., Dallo FJ; School of Health Sciences, Oakland University, Rochester, MI, 48309-4452, USA.
Publikováno v:
Journal of immigrant and minority health [J Immigr Minor Health] 2023 Oct; Vol. 25 (5), pp. 1098-1107. Date of Electronic Publication: 2023 Jun 23.
Autor:
Wallis M; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia., Bodek SD; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia. simon.bodek@austin.org.au.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia. simon.bodek@austin.org.au., Munro J; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia., Rafehi H; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia., Bennett MF; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia., Ye Z; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia., Schneider A; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia., Gardiner F; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia., Valente G; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia., Murdoch E; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia., Uebergang E; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia., Hunter J; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia., Stutterd C; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia., Huq A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Genetic Medicine Service, The Royal Melbourne Hospital, Melbourne, Australia., Salmon L; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Genetics Service, Royal Prince Alfred Hospital, Melbourne, Australia., Scheffer I; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Paediatrics, Austin Health, Melbourne, Australia., Eratne D; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, Australia., Meyn S; Centre for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA., Fong CY; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia., John T; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Peter MacCallum Cancer Centre, Melbourne, Australia., Mullen S; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia., White SM; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia., Brown NJ; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia., McGillivray G; Victorian Clinical Genetics Service, Melbourne, Australia.; Genetics Service, Mercy Hospital for Women, Melbourne, Australia., Chen J; Neurology Service, Austin Health, Melbourne, Australia., Richmond C; Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Hughes A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia., Krzesinski E; Monash Health Genetics Clinic, Melbourne, Australia., Fennell A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Monash Health Genetics Clinic, Melbourne, Australia., Chambers B; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia., Santoreneos R; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia., Le Fevre A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia., Hildebrand MS; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia., Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia., Christodoulou J; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia., Delatycki M; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia., Berkovic SF; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 02; Vol. 19 (1), pp. 288. Date of Electronic Publication: 2024 Aug 02.
Autor:
Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Gulsevin A; Department of Chemistry, Center for Structural Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Department of Pharmaceutical Sciences, College of Pharmacy and Health Sciences, Butler University, Indianapolis, Indiana, USA., Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Neumann S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Corner B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Kozuria M; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63597. Date of Electronic Publication: 2024 Mar 21.
Autor:
Balasar Ö; Department of Medical Genetics, Konya City Hospital, Konya, Turkey. ozgbalasar@hotmail.com., Başdemirci M; Department of Medical Genetics, Konya City Hospital, Konya, Turkey. dr_m.b@hotmail.com.
Publikováno v:
Journal of human genetics [J Hum Genet] 2023 Dec; Vol. 68 (12), pp. 797-804. Date of Electronic Publication: 2023 Jul 31.
Autor:
Adediran E; Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA., Owens R; Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA., Gardner E; Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA., Curtin A; Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA., Stuligross J; Utah Department of Health and Human Services, Salt Lake City, UT, USA.; Intermountain Healthcare, Salt Lake City, UT, USA., Forbes D; Utah Department of Health and Human Services, Salt Lake City, UT, USA., Wang J; Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA., Ose D; Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA. Dominik.Ose@outlook.com.; Faculty of Health and Healthcare Sciences, Westsächsische Hochschule Zwickau, Kornmarkt 1, 08056 Zwickau, 08012, Zwickau, Saxony, Germany. Dominik.Ose@outlook.com.
Publikováno v:
BMC primary care [BMC Prim Care] 2024 Aug 20; Vol. 25 (1), pp. 311. Date of Electronic Publication: 2024 Aug 20.