Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Autor: Bayam E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France. bayame@igbmc.fr.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France. bayame@igbmc.fr.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France. bayame@igbmc.fr.; Université de Strasbourg, Strasbourg, F-67000, France. bayame@igbmc.fr., Tilly P; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France., Collins SC; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France.; Université de Bourgogne, INSERM UMR1231, 21000, Dijon, France., Rivera Alvarez J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France., Kannan M; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France., Tonneau L; Université de Bourgogne, INSERM UMR1231, 21000, Dijon, France., Brivio E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France., Rinaldi B; Université de Strasbourg, CNRS, GMGM UMR7156, F-67000, Strasbourg, France.; INSERM, U1112, CRBS (Centre de recherche en biomédecine de Strasbourg), Université de Strasbourg, Strasbourg, F-67000, France., Lecat R; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France., Schwaller N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France.; Université de Strasbourg, Strasbourg, F-67000, France., Cotellessa L; Université de Lille, INSERM, CHU Lille, Laboratory of Development and Plasticity of the Neuroendocrine Brain, Lille Neuroscience & Cognition UMR-S 1172, Lille, France., Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Monteiro F; Mendelics Análise Genomica SA, CEP 02511-000, Sao Paulo, Brazil., Guardia CM; Placental Cell Biology Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Kitajima JP; Mendelics Análise Genomica SA, CEP 02511-000, Sao Paulo, Brazil., Kok F; Mendelics Análise Genomica SA, CEP 02511-000, Sao Paulo, Brazil.; Department of Neurology, University of Sao Paulo School of Medicine, 01246-903, Sao Paulo, Brazil., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8555, Japan., Hamed AAA; Department of Pediatric and Child Health, Faculty of Medicine University of Khartoum, Khartoum, Sudan., Salih MA; Health Sector, King Abdulaziz City for Science and Technology, Riyadh, 11442, Saudi Arabia., Al Tala S; Department of Pediatrics, Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Tada H; Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, 156-0057, Japan.; Division of Pediatrics, Chibaken Saiseikai Narashino Hospital, Chiba, 275-8580, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuuo-ku, Hamamatsu, 431-3192, Japan., Stabile M; Center of Genetics and Prenatal Diagnosis 'Zygote', 84131, Salerno, Italy., Giacobini P; Université de Lille, INSERM, CHU Lille, Laboratory of Development and Plasticity of the Neuroendocrine Brain, Lille Neuroscience & Cognition UMR-S 1172, Lille, France., Friant S; Université de Strasbourg, CNRS, GMGM UMR7156, F-67000, Strasbourg, France.; PCBIS-IMPReSs, Plateforme de Chimie Biologique Intégrative de Strasbourg, UAR 3286 CNRS/Université de Strasbourg, 67400, Illkirch, France., Yüksel Z; Human Genetics, Bioscientia GmbH, Ingelheim, Germany., Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Chuuo-ku, Hamamatsu, 431-3192, Japan., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Yalcin B; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France. binnaz.yalcin@inserm.fr.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France. binnaz.yalcin@inserm.fr.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France. binnaz.yalcin@inserm.fr.; Université de Strasbourg, Strasbourg, F-67000, France. binnaz.yalcin@inserm.fr.; INSERM UMR1231, Université de Bourgogne, 21000, Dijon, France. binnaz.yalcin@inserm.fr., Godin JD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, F-67404, France. godin@igbmc.fr.; Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, F-67404, France. godin@igbmc.fr.; Institut National de la Santé et de la Recherche Médicale, INSERM, U1258, Illkirch, F-67404, France. godin@igbmc.fr.; Université de Strasbourg, Strasbourg, F-67000, France. godin@igbmc.fr.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2024 Nov 28. Date of Electronic Publication: 2024 Nov 28.

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly.

Autor: Alsafh R; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Alhashem A; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Elsyed A; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Yüksel Z; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Graiess-Tlili K; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Hundallah K; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Thabet F; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia., Tabarki B; From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Publikováno v: Neurology. Genetics [Neurol Genet] 2024 Jul 16; Vol. 10 (4), pp. e200172. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).

The Human Phenotype Ontology in 2024: phenotypes around the world.

Autor: Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Matentzoglu N; Semanticly, Athens, Greece., Coleman B; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Addo-Lartey EB; Rare Disease Ghana Initiative, Accra, Ghana., Anagnostopoulos AV; The Jackson Laboratory, Bar Harbor, ME, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Avillach P; Harvard Medical School, Boston, MA, USA., Bagley AM; Shriners Children's Northern California, Sacramento, CA, USA., Bakštein E; National Institute of Mental Health, Klecany, Czech Republic., Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Bello SM; The Jackson Laboratory, Bar Harbor, ME, USA., Berk M; Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia., Bertram H; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Bishop S; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Bodenstein DF; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada., Botas P; Nostos Genomics GmbH, Berlin, Germany., Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Čady J; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA., Cameron R; Simon Fraser University, Burnaby, BC, Canada., Carbon SJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Castellanos F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA., Cruz-Rojo J; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain., Dahan-Oliel N; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada., Davids JR; Shriners Children's Northern California, Sacramento, CA, USA., de Dieuleveult M; Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France., de Souza V; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., de Vries E; Tranzo, TSB, Tilburg University, Netherlands., DePaulo JR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Derfalvi B; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Dhombres F; Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France., Diaz-Byrd C; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Donadille B; St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Duyzend M; Massachusetts General Hospital, Boston, MA, USA., Elfeky R; Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK., Essaid S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Fabrizzi C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Fico G; Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Freudenberg-Hua Y; Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Fullerton JM; Neuroscience Research Australia, Sydney, NSW, Australia., Gabriel DL; School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA., Gilmour K; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Giordano J; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Moses RG; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Green I; SNOMED International, London W2 6BD, UK., Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Gu W; Chinese HPO Consortium, Beijing, China., Guthrie J; Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria., Gyori B; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Hanauer M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Hanušová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., He YO; University of Michigan Medical School, Ann Arbor, MI, USA., Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Helbig I; Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Holasová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Hoyt CT; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Huang S; Chinese HPO Consortium, Beijing, China., Hurwitz E; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Jiang X; Chinese HPO Consortium, Beijing, China., Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Keramatian K; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., King B; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kroll C; William Harvey Research Institute, Queen Mary University of London, London, UK., Kusters M; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Lai MC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Laraway B; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lewis-Smith D; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Li X; Chinese HPO Consortium, Beijing, China., Lucano C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Majd M; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Martinez-Glez V; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain., McHenry TH; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., McInnis MG; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mihulová M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Millett CE; Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Mitchell PB; Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia., Moslerová V; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Narutomi K; Okinawa Prefectural Nanbu Medical Center & Children's Medical Center., Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada., Nevado J; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Nierenberg AA; Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA., Čajbiková NN; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Nurnberger JI Jr; Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Ogishima S; INGEM/ToMMo, Tohoku University, Sendai, Japan., Olson D; Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA., Ortiz A; Department of Psychiatry, University of Toronto, Toronto, ON, Canada., Pachajoa H; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia., Perez de Nanclares G; Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Peters A; Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Putman T; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Roy S; SNOMED International, London W2 6BD, UK., Sanders SJ; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Schuetz C; Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany., Schulte EC; Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany., Schulze TG; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Schwarz M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Scott K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada., Seelow D; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany., Shen Y; Chinese HPO Consortium, Beijing, China., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Simon ES; Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA., Singh B; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith CL; The Jackson Laboratory, Bar Harbor, ME, USA., Smolinsky JT; Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA., Sperry S; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Stafford E; The National Alliance on Mental Illness, Arlington, VA, USA., Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., Steinhaus R; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Strawbridge R; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Talapova P; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Tenorio Castano JA; Institute of Medical and Molecular Genetics, Hospital Univ. 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Publikováno v: Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D1333-D1346.

TIP DALLARINDAKİ GELİŞMELERİN TARİHİ

Autor: Özder, Aclan, Yüksel, Zeyneb İrem

Aile Hekimliğinin Dünyadaki GelişimiTıp ilmi kimi zaman bilimsel, kimi zamansa meydana gelen sosyal süreçlere cevaben gelişmiştir. Teknolojik gelişmelere paralel olarak tıpta yeni uzmanlık dallarının ortaya çıktığı görülmektedir.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9651::161e58063f7be3767643b034ed0a5dd3
http://hdl.handle.net/20.500.12645/30152

Relationship between dose and stopping power values for electrons in skin and muscle tissues.

Autor: Yüksel Z; Medical Services and Techniques Department, Vocational School of Health Services, Ondokuz Mayıs University, 55139, Samsun, Turkey. zeynep.boz@omu.edu.tr., Tufan MÇ; Graduate School, Department of Radiological Sciences, Ondokuz Mayıs University, 55139, Samsun, Turkey.

Publikováno v: Radiation and environmental biophysics [Radiat Environ Biophys] 2021 Mar; Vol. 60 (1), pp. 135-140. Date of Electronic Publication: 2021 Feb 02.