학술논문
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'학술논문'
에서 검색결과 75건 | 목록
1~20
Academic Journal
Boyadjiev, Simeon A ; Jabs, Ethylin Wang ; LaBuda, Michele ; Jamal, Joseph E ; Torbergsen, Torberg ; Ptáček, Louis J, II ; Rogers, R.Curtis ; Nyberg-Hansen, Rolf ; Opjordsmoen, Stein ; Zeller, Cynthia B ; Stine, O.Colin ; Stalker, Heather J ; Zori, Roberto T ; Shapiro, Robert E
In Genomics 15 May 1999 58(1):34-40
Academic Journal
Jelin AC; Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Sopko N; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Sobreira N; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Boyadjiev SA; Department of Pediatrics, University of California Davis, Davis, CA, United States.; Wohler E; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Morrill C; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Witmer PD; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Michaud J; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Valle D; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Gearhart J; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.; Dicarlo H; Department of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, United States.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Kague E; School of Physiology, Pharmacology and Neuroscience, Biomedical Sciences, University of Bristol, Bristol, United Kingdom.; Medina-Gomez C; Department of Internal Medicine, Erasmus Medical Center (MC), University Medical Center Rotterdam, Rotterdam, Netherlands.; Boyadjiev SA; Department of Pediatrics, University of California, Davis, Sacramento, CA, United States.; Rivadeneira F; Department of Oral and Maxillofacial Surgery, Erasmus Medical Center (MC), University Medical Center Rotterdam, Rotterdam, Netherlands.
Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Academic Journal
Justice CM; Genometrics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health (NIH), Baltimore, MD 21224, USA.; Musolf AM; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health (NIH), Baltimore, MD 21224, USA.; Cuellar A; Department of Pediatrics, University of California Davis, Sacramento, CA 95616, USA.; Lattanzi W; Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Simeonov E; Pediatric Clinic, Alexandrovska University Hospital, Medical University of Sofia, 1431 Sofia, Bulgaria.; Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.; Paschall J; Bioinformatics Core, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health (NIH), Bethesda, MD 20892, USA.; Cunningham M; Seattle Children's Craniofacial Center, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DS, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DS, UK.; Wilson AF; Genometrics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institute of Health (NIH), Baltimore, MD 21224, USA.; Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA 52242, USA.; Boyadjiev SA; Department of Pediatrics, University of California Davis, Sacramento, CA 95616, USA.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Lu CL; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, Iowa, USA.; Ortmeier S; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Brudvig J; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Moretti T; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, Iowa, USA.; Cain J; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Boyadjiev SA; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA.; Weimer JM; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Kim J; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, Iowa, USA.
Publisher: Wiley Country of Publication: England NLM ID: 100939340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0854 (Electronic) Linking ISSN: 13989219 NLM ISO Abbreviation: Traffic Subsets: MEDLINE
Academic Journal
Musolf AM; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Baltimore, MD, 21224, USA.; Justice CM; Neurobehavioral Clinical Research Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.; Erdogan-Yildirim Z; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Goovaerts S; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT-PSI, KU Leuven, Leuven, Belgium.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium.; Cuellar A; Department of Pediatrics, University of California Davis, Sacramento, CA, 95817, USA.; Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15213, USA.; Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15213, USA.; Claes P; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT-PSI, KU Leuven, Leuven, Belgium.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium.; Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15213, USA.; Li J; Bioinformatics Core, Genome Center, University of California Davis, Davis, CA, 95618, USA.; Senders C; Department of Otolaryngology, Head and Neck Surgery, University of California Davis, Sacramento, CA, 95817, USA.; Zwienenberg M; Department of Neurosurgery, University of California Davis, Sacramento, CA, 95817, USA.; Simeonov E; Pediatric Clinic, Alexandrovska University Hospital, Medical University of Sofia, 1431, Sofia, Bulgaria.; Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431, Sofia, Bulgaria.; Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.; Di Pietro L; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy.; Barba M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy.; Lattanzi W; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy.; Cunningham ML; Seattle Children's Craniofacial Center, Center of Developmental Biology and Regenerative Medicine and Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98105, USA.; Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA, 52242, USA. paul-romitti@uiowa.edu.; Boyadjiev SA; Department of Pediatrics, University of California Davis, Sacramento, CA, 95817, USA.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Academic Journal
Bala K; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Cuellar A; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Herren AW; UC Davis Genome Center, University of California Davis, Davis, California, USA.; Boyadjiev SA; Department of Pediatrics, University of California Davis, Sacramento, California, USA.
Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101298608 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1862-8354 (Electronic) Linking ISSN: 18628346 NLM ISO Abbreviation: Proteomics Clin Appl
Academic Journal
Nicoletti P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Zafer S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Matok L; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.; Irron I; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Patrick M; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Haklai R; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Evangelista JE; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Marino GB; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Ma'ayan A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Sewda A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Holmes G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Britton SR; Department of Population Health Sciences, Weill Cornell Medical College of Cornell University New York, NY.; Lee WJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Wu M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Ru Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Arnaud E; Department of Neurosurgery, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Botto L; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Brody LC; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD.; Byren JC; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Carmichael SL; Department of Pediatrics, Department of Obstetrics and Gynecology, Stanford University, Stanford, CA.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Conway K; Department of Epidemiology, University of Iowa, Iowa City, IA.; Crawford K; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Cuellar A; Department of Pediatrics, University of California, Davis, CA.; Di Rocco F; Hôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.; Engel M; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Fearon J; The Craniofacial Center, Medical City Children's Hospital Dallas, Dallas, TX.; Feldkamp ML; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Finnell R; Center for Precision Environmental Health, Department of Molecular and Cell Biology, Baylor College of Medicine, Houston, Texas.; Fisher S; Birth Defects Registry, New York State Department of Health, Albany, NY.; Freudlsperger C; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Garcia-Fructuoso G; Hospital Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain.; Hagge R; Department of Epidemiology, University of Iowa, Iowa City, IA.; Heuzé Y; Université de Bordeaux, CNRS, Ministère de la Culture, PACEA, Pessac, France.; Harshbarger RJ; Department of Surgery, Division of Pediatric Plastic Surgery, UT Austin, Austin, TX.; Hobbs C; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Howley M; Birth Defects Registry, New York State Department of Health, Albany, NY.; Jenkins MM; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.; Johnson D; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Justice CM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.; Kane A; Department of Plastic Surgery, UT Southwestern Medical Center, Dallas, TX.; Kay D; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Gosain AK; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.; Langlois P; Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Austin Campus, Austin, TX.; Legal-Mallet L; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université de Paris Cité, Imagine Institute, INSERM U1163, Paris, France.; Lin AE; Medical Genetics, Mass General Hospital for Children, Harvard Medical School, Boston, MA.; Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.; Morton JEV; Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom.; Olshan A; Department of Epidemiology, University of North Carolina, Chapel Hill, NC.; Persing J; Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT.; Phipps JM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Redett R; Department of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD.; Reefhuis J; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA.; Rizk E; Department of Neurosurgery, Pennsylvania State University Medical Center, Hershey, PA.; Samson TD; Division of Plastic and Reconstructive Surgery, Department of Surgery, Pennsylvania State University Medical Center, Hershey, PA.; Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA.; Sicko R; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY.; Smith N; Neuroscience Institute, Pennsylvania State University, College of Medicine, Hershey Medical Center, Hershey, PA.; Staffenberg D; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Sweeney E; Department of Clinical Genetics, Liverpool Women's Hospital NHS Trust, Liverpool, United Kingdom.; Taub PJ; Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, NY.; Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY.; Topczewska J; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL.; Wall SA; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Wilson AF; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Boyadjiev SA; Department of Pediatrics, University of California, Davis, CA.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Richtsmeier JT; Department of Anthropology, Pennsylvania State University, University Park, PA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, IA.; Karasik D; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel.; Birnbaum RY; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel.; Peter I; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Academic Journal
Goovaerts S; Department of Human Genetics, KU Leuven, Leuven, Belgium. seppe.goovaerts@kuleuven.be.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium. seppe.goovaerts@kuleuven.be.; Hoskens H; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.; Eller RJ; Department of Biology, Indiana University Indianapolis, Indianapolis, IN, USA.; Herrick N; Department of Biology, Indiana University Indianapolis, Indianapolis, IN, USA.; Musolf AM; Statistical Genetics Section, Computational and Statistical Genomics Branch, NHGRI, NIH, MD, Baltimore, USA.; Justice CM; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Neurobehavioral Clinical Research Section, Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Yuan M; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.; Naqvi S; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA, USA.; Departments of Genetics and Biology, Stanford University School of Medicine, Stanford, CA, USA.; Lee MK; Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Vandermeulen D; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium.; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.; Szabo-Rogers HL; Department of Anatomy, Physiology and Pharmacology, University of Saskatchewan, Saskatchewan, Canada.; Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA, USA.; Boyadjiev SA; Department of Pediatrics, University of California Davis, Sacramento, CA, USA.; Marazita ML; Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Shaffer JR; Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Shriver MD; Department of Anthropology, Pennsylvania State University, State College, PA, USA.; Wysocka J; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA.; Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, USA.; Walsh S; Department of Biology, Indiana University Indianapolis, Indianapolis, IN, USA.; Weinberg SM; Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, USA. smwst46@pitt.edu.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA. smwst46@pitt.edu.; Department of Anthropology, University of Pittsburgh, Pittsburgh, PA, USA. smwst46@pitt.edu.; Claes P; Department of Human Genetics, KU Leuven, Leuven, Belgium. peter.claes@kuleuven.be.; Medical Imaging Research Center, University Hospitals Leuven, Leuven, Belgium. peter.claes@kuleuven.be.; Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium. peter.claes@kuleuven.be.; Murdoch Children's Research Institute, Melbourne, VIC, Australia. peter.claes@kuleuven.be.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
Justice CM; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Cuellar A; Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.; Bala K; Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.; Sabourin JA; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Cunningham ML; Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.; Crawford K; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Phipps JM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Zhou Y; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Byren JC; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wall SA; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Sweeney E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, England, UK.; Rees KEM; Clinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Simeonov E; National Institute of Pediatrics, Sofia Medical University, Sofia, Bulgaria.; Kaneva R; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.; Yaneva N; National Genetic Laboratory, University Hospital of Obstetrics and Gynecology 'Maichin Dom', Medical University of Sofia, Sofia, Bulgaria.; Georgiev K; Department of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.; Bussarsky A; Department of Neurosurgery, University Hospital 'St. Ivan Rilski', Medical University of Sofia, Sofia, Bulgaria.; Senders C; Department of Otolaryngology, Head and Neck Surgery, University of California Davis, Sacramento, CA, USA.; Zwienenberg M; Department of Neurosurgery, University of California Davis, Sacramento, CA, USA.; Boggan J; Department of Neurosurgery, University of California Davis, Sacramento, CA, USA.; Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.; Tamburrini G; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Section of Neurosurgery, Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Barba M; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Section of Experimental Biology, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Conway K; Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA.; Sheffield VC; Department of Pediatrics, Division of Medical Genetics, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.; Brody L; Gene and Environment Interaction Section, NHGRI, Bethesda, NIHMD, USA.; Mills JL; Epidemiology Branch, Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD, USA.; Kay D; Division of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.; Sicko RJ; Division of Genetics, NYS Department of Health, Wadsworth CenterAlbany, NY, USA.; Langlois PH; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.; Tittle RK; Department of Nutritional Sciences, University of Texas at Austin, Austin, TX, USA.; Botto LD; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Jenkins MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.; LaSalle JM; Department of Medical Microbiology and Immunology, Genome Center, and MIND Institute, University of California Davis, Davis, CA, USA.; Lattanzi W; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Section of Experimental Biology, Department of Life Science and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wilson AF; Genometrics Section, Computational and Statistical Genomics Branch, Division of Intramural Research, NHGRI, NIH, Baltimore, MD, USA.; Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA, 52242, USA. paul-romitti@uiowa.edu.; Boyadjiev SA; Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA. sboyd@ucdavis.edu.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
Chassaing, Nicolas; Sorrentino, Susanna; Davis, Erica E; Martin-Coignard, Dominique; Iacovelli, Anthony; Paznekas, William; Webb, Bryn D; Faye-Petersen, Ona; Encha-Razavi, Férechté; Lequeux, Leopoldine; Vigouroux, Adeline; Yesilyurt, Ahmet; Boyadjiev, Simeon A; Kayserili, Hülya; Loget, Philippe; Carles, Dominique; Sergi, Consolato; Puvabanditsin, Surasak; Chen, Chih-Ping; Etchevers, Heather C; Katsanis, Nicholas; Mercer, Catherine L; Calvas, Patrick; Jabs, Ethylin Wang
Journal of Medical Genetics. Jun 01, 2012 49(6):373-379
Academic Journal
Seminars in Pediatric Neurology. 14:150-161
Academic Journal
Schiffmann R; Institute of Metabolic Disease, 3812 Elm Street, Dallas, TX 75226.; Goker-Alpan O; Lysosomal Disorders Research and Treatment Unit, O&O Alpan LLC, Fairfax, Virginia.; Holida M; Medical Genetics-Lysosomal Storage Disorders, University of Iowa, Iowa City, Iowa.; Giraldo P; Centro de Investigación Biomédica en Red de Enfermedades Raras, Hospital de Dia Quiron, Zaragoza, Spain.; Barisoni L; Department of Pathology, University of Miami, Miami, Florida.; Colvin RB; Department of Pathology Boston, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Jennette CJ; Department of Pathology, University of North Carolina, Chapel Hill, North Carolina.; Maegawa G; Department of Pediatrics/Genetics & Metabolism, University of Florida, Gainesville, Florida.; Boyadjiev SA; Department of Pediatrics, Section of Genetics, MIND Institute, UC Davis Medical Center, Sacramento, California.; Gonzalez D; Department of Haematology, Instituto Privado de Hematologia e Investigación Clínica, Asunción, Paraguay.; Nicholls K; Nephrology Department, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Tuffaha A; Division of Nephrology & Hypertension, University of Kansas Medical Center, Kansas City, Kansas.; Atta MG; Department of Medicine, Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Rup B; Bioanalysis, Immunogenicity, Regulatory at Bonnie Rup Consulting LLC, Bonnie Rup Consulting LLC, Reading, Massachusetts.; Charney MR; Pharmacokinetics Consultant, Pharmacokinetics, Pharmacokinetics Consultant, Toronto, Ontario, Canada.; Paz A; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Szlaifer M; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Alon S; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Brill-Almon E; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Chertkoff R; Department of Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Hughes D; Department of Haematology, LSDU, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, London, UK.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
Valayannopoulos, Vassili; Malinova, Vera; Honzík, Tomas; Balwani, Manisha; Breen, Catherine; Deegan, Patrick B; Enns, Gregory M; Jones, Simon A; Kane, John P; Stock, Eveline O; Tripuraneni, Radhika; Eckert, Stephen; Schneider, Eugene; Hamilton, Gavin; Middleton, Michael S; Sirlin, Claude; Kessler, Bruce; Bourdon, Christopher; Boyadjiev, Simeon A; Sharma, Reena; Twelves, Chris; Whitley, Chester B; Quinn, Anthony G
Journal of hepatology, vol 61, iss 5
Academic Journal
Reutter, Heiko; Draaken, Markus; Pennimpede, Tracie; Wittler, Lars; Brockschmidt, Felix F; Ebert, Anne-Karolin; Bartels, Enrika; Rösch, Wolfgang; Boemers, Thomas M; Hirsch, Karin; Schmiedeke, Eberhard; Meesters, Christian; Becker, Tim; Stein, Raimund; Utsch, Boris; Mangold, Elisabeth; Nordenskjöld, Agneta; Barker, Gillian; Kockum, Christina Clementsson; Zwink, Nadine; Holmdahl, Gundula; Läckgren, Göran; Jenetzky, Ekkehart; Feitz, Wouter Fj; Marcelis, Carlo; Wijers, Charlotte H W; van Rooij, Iris A L M; Gearhart, John P; Herrmann, Bernhard G; Ludwig, Michael; Boyadjiev, Simeon A; Nöthen, Markus M; Mattheisen, Manuel
Human molecular genetics 23(20), 5536-5544 (2014). doi:10.1093/hmg/ddu259
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Human Molecular Genetics
Reutter, H, Draaken, M, Pennimpede, T, Wittler, L, Brockschmidt, F F, Ebert, A-K, Bartels, E, Rösch, W, Boemers, T M, Hirsch, K, Schmiedeke, E, Meesters, C, Becker, T, Stein, R, Utsch, B, Mangold, E, Nordenskjöld, A, Barker, G, Kockum, C C, Zwink, N, Holmdahl, G, Läckgren, G, Jenetzky, E, Feitz, W F, Marcelis, C, Wijers, C H W, van Rooij, I A L M, Gearhart, J P, Herrmann, B G, Ludwig, M, Boyadjiev, S A, Nöthen, M M & Mattheisen, M 2014, 'Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder', Human Molecular Genetics. https://doi.org/10.1093/hmg/ddu259
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Human Molecular Genetics
Reutter, H, Draaken, M, Pennimpede, T, Wittler, L, Brockschmidt, F F, Ebert, A-K, Bartels, E, Rösch, W, Boemers, T M, Hirsch, K, Schmiedeke, E, Meesters, C, Becker, T, Stein, R, Utsch, B, Mangold, E, Nordenskjöld, A, Barker, G, Kockum, C C, Zwink, N, Holmdahl, G, Läckgren, G, Jenetzky, E, Feitz, W F, Marcelis, C, Wijers, C H W, van Rooij, I A L M, Gearhart, J P, Herrmann, B G, Ludwig, M, Boyadjiev, S A, Nöthen, M M & Mattheisen, M 2014, 'Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder', Human Molecular Genetics. https://doi.org/10.1093/hmg/ddu259
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Genetics in Medicine, vol 16, iss 4
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Draaken, Markus; Baudisch, Friederike; Timmermann, Bernd; Kuhl, Heiner; Kerick, Martin; Proske, Judith; Wittler, Lars; Pennimpede, Tracie; Ebert, Anne-Karoline; Rösch, Wolfgang; Stein, Raimund; Bartels, Enrika; von Lowtzow, Catharina; Boemers, Thomas M; Herms, Stefan; Gearhart, John P; Lakshmanan, Yegappan; Kockum, Christina Clementsson; Holmdahl, Gundela; Läckgren, Göran; Nordenskjöld, Agnetha; Boyadjiev, Simeon A; Herrmann, Bernhard G; Nöthen, Markus M; Ludwig, Michael; Reutter, Heiko
Birth defects research. Clinical and molecular teratology. 100(6):512-517
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Qi, Lihong; Wang, Mei; Yagnik, Garima; Mattheisen, Manuel; Gearhart, John P; Lakshmanan, Yegappan; Ebert, Anne-Karolin; Rösch, Wolfgang; Ludwig, Michael; Draaken, Markus; Reutter, Heiko; Boyadjiev, Simeon A
Qi, L, Wang, M, Yagnik, G, Mattheisen, M, Gearhart, J P, Lakshmanan, Y, Ebert, A-K, Rösch, W, Ludwig, M, Draaken, M, Reutter, H & Boyadjiev, S A 2013, 'Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex', Birth Defects Research. Part A: Clinical and Molecular Teratology. https://doi.org/10.1002/bdra.23161
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Justice, Cristina M; Yagnik, Garima; Kim, Yoonhee; Peter, Inga; Jabs, Ethylin Wang; Erazo, Monica; Ye, Xiaoqian; Ainehsazan, Edmond; Shi, Lisong; Cunningham, Michael L; Kimonis, Virginia; Roscioli, Tony; Wall, Steven A; Wilkie, Andrew OM; Stoler, Joan; Richtsmeier, Joan T; Heuzé, Yann; Sanchez-Lara, Pedro A; Buckley, Michael F; Druschel, Charlotte M; Mills, James L; Caggana, Michele; Romitti, Paul A; Kay, Denise M; Senders, Craig; Taub, Peter J; Klein, Ophir D; Boggan, James; Zwienenberg-Lee, Marike; Naydenov, Cyrill; Kim, Jinoh; Wilson, Alexander F; Boyadjiev, Simeon A
Nature Genetics, 44, 12, pp. 1360-4
Nature Genetics, vol 44, iss 12
Nature Genetics, vol 44, iss 12
Academic Journal
Paznekas, William A; Karczeski, Barbara; Vermeer, Sascha; Lowry, R Brian; Delatycki, Martin; Laurence, Faivre; Koivisto, Pasi A; Van Maldergem, Lionel; Boyadjiev, Simeon A; Bodurtha, Joann N; Jabs, Ethylin Wang
Human Mutation, 30, 5, pp. 724-33
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