Zobrazeno 1 - 10
of 1 073
pro vyhledávání: '"Lacassie, Y"'
Autor:
Rauen, Katherine A., Tidyman, William E., Estep, Anne L., Sampath, Srirangan, Peltier, Henry M., Bale, Sherri J., Lacassie, Yves
Publikováno v:
American Journal of Medical Genetics. Part A; April 2010, Vol. 152 Issue: 4 p807-814, 8p
Autor:
McGoey, Robin R., Lacassie, Yves
Publikováno v:
American Journal of Medical Genetics. Part A; February 2008, Vol. 146 Issue: 4 p488-491, 4p
Publikováno v:
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p797-799, 3p
Autor:
Hammann N; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Baric I; Department of Paediatrics, University Hospital Center Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Crushell E; National Centre for Inherited Metabolic Disorders, Childrens Health Ireland, Temple Street, Dublin 1, Ireland., Vici CD; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Feillet F; Department of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France., Freisinger P; Children's Hospital Reutlingen, Germany., Hempel M; Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany., Khoreva AL; Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology, Immunology Moscow, Russia., Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Lacassie Y; Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA., Lainka E; Pediatrics II, Department for Pediatric Nephrology, Gastroenterology, Endocrinology and Transplant Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Larson-Nath C; Pediatric Gastroenterology, University of Minnesota Medical School, Minneapolis, MN, USA., Li Z; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Lipiński P; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland., Lurz E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Mégarbané A; Department of Human Genetics Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon; Institut Jérôme Lejeune, Paris, France., Nobre S; Pediatric Hepatology and Liver Transplantation Unit, Pediatric Department, Coimbra Hospital and Universitary Centre, Coimbra, Portugal., Olivieri G; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Peters B; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Prontera P; Medical Genetics Unit, Maternal-Infantile Department, Hospital and University of Perugia, Perugia, Italy., Schlieben LD; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Seroogy CM; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Wisconsin-Madison, USA., Sobacchi C; Humanitas Research Hospital IRCCS, Rozzano, Italy; Institute for Genetic and Biomedical Research-National Research Council, Milan Unit, Milan, Italy., Suzuki S; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan., Tran C; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Vockley J; University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Wang JS; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Wagner M; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Christian.Staufner@med.uni-heidelberg.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108118. Date of Electronic Publication: 2024 Jan 11.
Autor:
Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Kishikawa S; Gene Engineering Division, RIKEN BioResource Research Center, Tsukuba, Japan., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Leach NT; Integrated Genetics, Laboratory Corporation of America Holdings, 3400 Computer Drive, Westborough, MA, 01581, USA., Shen Y; Division of Genetics and Genomics at Boston Children's Hospital, Harvard Medical School, Boston, MA, 02114, USA., Moldovan O; Medical Genetics Service, Pediatric Department, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Goel H; Hunter Genetics, Waratah, NSW, 2298, Australia.; University of Newcastle, Callaghan, NSW, 2308, Australia., Hopper B; Forster Genetics-Hunter New England Local Health District, Forster, NSW, 2428, Australia., Ranguin K; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France., Gruchy N; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France., Maas SM; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, the Netherlands., Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University, New Orleans, LA, 70118, USA., Kim SH; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK., Kim WY; Department of Biological Sciences, Kent State University, Kent, OH, 44242, USA., Quade BJ; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Morton CC; Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester, UK., Kim CH; Department of Biology, Chungnam National University, Daejeon, 34134, Korea., Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, USA., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar. hkim@hbku.edu.qa.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. hkim@hbku.edu.qa.
Publikováno v:
Scientific reports [Sci Rep] 2023 Aug 10; Vol. 13 (1), pp. 12984. Date of Electronic Publication: 2023 Aug 10.
Autor:
Chanes B; Louisiana State University, Baton Rouge, Louisiana, USA., Arriaza M; Division of Endocrinology and Genetics, Hospital Dr. Gustavo Fricke, Viña del Mar, Chile.; Department of Pediatrics, Universidad de Valparaíso, Valparaíso, Chile., Lacassie Y; Professor Emeritus, Department of Pediatrics, Division of Clinical Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1242-1246. Date of Electronic Publication: 2021 Jan 13.
Autor:
Ben-Mahmoud A; Hamad Bin Khalifa University., Kishikawa S; RIKEN BioResource Research Center., Gupta V; Hamad Bin Khalifa University., Leach NT; Laboratory Corporation of America Holdings., Shen Y; Harvard Medical School., Moldovan O; Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte., Goel H; University of Newcastle., Hopper B; Forster Genetics-Hunter New England Local Health District., Ranguin K; CHU de Caen Normandie., Gruchy N; CHU de Caen Normandie., Maas SM; University of Amsterdam., Lacassie Y; Louisiana State University., Kim SH; University of London., Kim WY; Kent State University., Quade BJ; Harvard Medical School., Morton CC; Harvard Medical School., Kim CH; Chungnam National University., Layman LC; Augusta University., Kim HG; Hamad Bin Khalifa University.
Publikováno v:
Research square [Res Sq] 2023 Mar 27. Date of Electronic Publication: 2023 Mar 27.
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Autor:
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Porter HM; Children's National Hospital, Rare Disease Institute, Washington, District of Columbia, USA., Izadi M; Division of Genomics and Translational Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Lacassie Y; Department of Pediatrics, Louisiana State University Health Sciences Center, Head Division of Clinical Genetics and Dept. of Genetics Children's Hospital 1986-2016, New Orleans, Los Angeles, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Ali TA; Division of Genomics and Translational Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Haymon ML; Children Hospital New Orleans Louisiana, Pediatric Radiology, Tulane Associate Professor of Radiology, New Orleans, Los Angeles, USA., Rüschendorf F; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Kong IK; Department of Animal Sciences, Division of Applied Life Science (BK21 Four), Gyeongsang National University, Jinju, South Korea., Schnapp L; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Shur N; Children's National Hospital, Rare Disease Institute, Washington, District of Columbia, USA., Chorich L; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, USA., Layman L; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, USA., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Pourkarimi E; Division of Genomics and Translational Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Publikováno v:
Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1472-1489. Date of Electronic Publication: 2022 Jul 21.
Autor:
Minatogawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan., Unzaki A; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project, Matsumoto, Japan., Morisaki H; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan., Syx D; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Sonoda T; Department of Occupational Therapy, School of Health and Science, Kyushu University of Health and Welfare, Nobeoka, Japan., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Slavotinek A; Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands., Lacassie Y; Department of Pediatrics, Louisiana State University Health Science Center, New Orleans, LA, USA.; Division of Clinical Genetics and Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA, USA., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Gahl WA; Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft CJ; Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Figuera LE; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maugeri A; Department of Clinical Genetics, VU University Medical Centre Amsterdam, Amsterdam, The Netherlands., Ishikawa K; Department of Pediatrics, Iwate Medical University, Morioka, Japan., Kobayashi T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.; Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Graduate School of Medicine, Tohoku University, Senda, Japan., Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan., Ohura T; Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan., Kawame H; Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.; Miyagi Children's Hospital, Sendai, Japan.; Division of Clinical Genetics, Jikei University Hospital, Tokyo, Japan., Kono M; Department of Dermatology, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Japan.; Department of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine School of Medicine, Akita, Akita, Japan., Mochida K; Department of Dermatology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan., Tokorodani C; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan., Kikkawa K; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan., Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.; Division of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.; Department of Internal Medicine, IMSUT Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Kobayashi T; Department of Internal Medicine, Nagano Chuo Hospital, Nagano, Japan., Nakane T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan., Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan., Ranells JD; Department of Pediatrics, University of South Florida, College of Medicine, Tampa, FL, USA., Migita O; Department of Clinical Genetics, St. Marianna University, School of Medicine, Kawasaki, Japan., Sobey G; EDS National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Kaur A; Department of Pediatrics (Genetics Division), Advanced Pediatric Cente, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India., Ishikawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan., Yamaguchi T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Malfait F; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan ktomoki@shinshu-u.ac.jp.; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.; Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Sep; Vol. 59 (9), pp. 865-877. Date of Electronic Publication: 2021 Nov 23.