Zobrazeno 1 - 10
of 2 216
pro vyhledávání: '"Smith‐Lemli‐Opitz syndrome"'
Autor:
Selvaraman A; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Rahhal S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Bianconi S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Furnary T; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2025 Feb; Vol. 197 (2), pp. e63875. Date of Electronic Publication: 2024 Sep 13.
Autor:
Luke RA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Cawley NX; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Rahhal S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Selvaraman A; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, MD, USA., Wassif CA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: fdporter@mail.nih.gov.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108570. Date of Electronic Publication: 2024 Aug 30.
Autor:
Bonnot Ruget M; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France., Moulin P; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.; 26900 Fédération d'endocrinologie, maladies métaboliques, diabète et nutrition, GHE, Hospices Civils de Lyon , Bron Cedex, France., Pagan C; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France., Cheillan D; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France., Marmontel O; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France., Raverot G; Lyon 1 University, Villeurbanne, France.; Endocrinology Department, 26900 Reference Center for Rare Pituitary Diseases HYPO, 'Groupement Hospitalier Est' Hospices Civils de Lyon , Bron, France.; Inserm U1052, CNRS UMR5286, Cancer Research Center of Lyon, Lyon, France., Benlian P; Univ. Lille, INSERM, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 1283 - EGID, Lille, France., Di Filippo M; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.
Publikováno v:
Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2024 Apr 08; Vol. 62 (9), pp. e200-e202. Date of Electronic Publication: 2024 Apr 08 (Print Publication: 2024).
Autor:
Gabor K; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Mesev EV; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Madenspacher J; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Meacham J; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Rai P; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Moon S; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Wassif CA; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Shaikh SR; Department of Nutrition, Gillings School of Global Public Health and School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Tucker CJ; Fluorescence Microscopy and Imaging Center, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Karmaus P; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Bianconi S; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Fessler MB; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Jan 18; Vol. 134 (6). Date of Electronic Publication: 2024 Jan 18.
Autor:
López-Cañizares A; Bascom Palmer Eye Institute, Miami, Florida., Al-Khersan H; Bascom Palmer Eye Institute, Miami, Florida., Fernandez MP; Bascom Palmer Eye Institute, Miami, Florida., Lin BR; Bascom Palmer Eye Institute, Miami, Florida., Goduni L; Bascom Palmer Eye Institute, Miami, Florida., Berrocal AM; Bascom Palmer Eye Institute, Miami, Florida. Electronic address: ABerrocal@med.miami.edu.
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2023 Apr; Vol. 27 (2), pp. 100-102. Date of Electronic Publication: 2022 Dec 21.
Autor:
Freel BA; Basic Biomedical Sciences, University of South Dakota, Vermillion, SD 57069, USA.; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA., Kelvington BA; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA., Sengupta S; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA., Mukherjee M; Functional Genomics and Bioinformatics Core, Sanford Research, Sioux Falls, SD 57104, USA., Francis KR; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD 57105, USA.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2022 Dec 01; Vol. 15 (12). Date of Electronic Publication: 2022 Dec 16.
Autor:
Miyazaki S; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan; Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine, Yufu, Oita, Japan., Shimizu N; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Miyahara H; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, Japan., Teranishi H; Department of Neurophysiology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Umeda R; Department of Advanced Medical Sciences, Oita University Faculty of Medicine, Yufu, Oita, Japan., Yano S; Institute for Research Management, Oita University, Yufu, Oita, Japan., Shimada T; Oita Medical Technology School, Japan College of Judo-Therapy, Acupuncture & Moxibustion Therapy, Oita, Japan., Shiraishi H; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Komiya K; Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine, Yufu, Oita, Japan., Katoh A; Department of Clinical Pharmacology & Therapeutics, Oita University, Yufu, Oita, Japan., Yoshimura A; Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan., Hanada R; Department of Neurophysiology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Hanada T; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan. Electronic address: thanada@oita-u.ac.jp.
Publikováno v:
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Jun 18; Vol. 712-713, pp. 149932. Date of Electronic Publication: 2024 Apr 12.
Autor:
Tomita H; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Hines KM; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Herron JM; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Li A; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Baggett DW; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Xu L; Department of Medicinal Chemistry, University of Washington, Seattle, United States.
Publikováno v:
ELife [Elife] 2022 Sep 16; Vol. 11. Date of Electronic Publication: 2022 Sep 16.
Autor:
Ballout RA; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA.; Department of Pediatrics, University of Texas Southwestern (UTSW) Medical Center and Children's Health, Dallas, TX, USA., Livinski A; Division of Library Services, National Institutes of Health Library, Office of Research Services, Bethesda, Maryland, USA., Fu YP; Office of Biostatistics Research, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA., Steiner RD; Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Remaley AT; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA.
Publikováno v:
The Cochrane database of systematic reviews [Cochrane Database Syst Rev] 2022 Nov 14; Vol. 11. Cochrane AN: CD013521. Date of Electronic Publication: 2022 Nov 14.
Autor:
Farkas MH; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY., Skelton LA; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY., Ramachandra-Rao S; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY., Au E; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY., Fliesler SJ; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY.
Publikováno v:
Molecular vision [Mol Vis] 2022 Nov 12; Vol. 28, pp. 394-411. Date of Electronic Publication: 2022 Nov 12 (Print Publication: 2022).