The effect of nebulized salbutamol or isotonic saline on exercise-induced bronchoconstriction in elite skaters following a 1,500-meter race: study protocol for a randomized controlled trial.

Autor: Driessen, Jean Mm, Gerritsma, Margryt, Westbroek, Jaap, Ten Hacken, Nick Ht, de Jongh, Frans Hc, Driessen, Jean M M, ten Hacken, Nick H T, de Jongh, Frans H C

Publikováno v: Trials; 2013, Vol. 14 Issue 1, p204-204, 1p

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Autor: Hadar N; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Dolgin V; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Oustinov K; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Poleg T; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Safran A; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Freund O; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Agam N; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Jean MM; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Wormser O; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Drabkin M; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Halperin D; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Eskin-Schwartz M; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel., Narkis G; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel., Sued-Hendrickson S; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Aminov I; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Gombosh M; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Aharoni S; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel. obirk@bgu.ac.il.; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel. obirk@bgu.ac.il.

Publikováno v: Human genetics [Hum Genet] 2024 May; Vol. 143 (5), pp. 695-701. Date of Electronic Publication: 2024 Apr 12.

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.

Autor: Drabkin M; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Jean MM; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Noy Y; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Halperin D; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Wormser O; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Dolgin V; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel., Levaot N; Department of Physiology and Cell Biology, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Brumfeld V; Department of Chemical Research Support, Weizmann Institute of Science, Rehovot, Israel., Ovadia S; Ben-Gurion University of the Negev, Beer-Sheva, Israel., Kishner M; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Kazenell U; Department of Otolaryngology, Head and Neck Surgery, Kaplan Medical Center, Rehovot, Israel., Avraham KB; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Shelef I; Department of Radiology, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel obirk@bgu.ac.il.; Genetics Institute, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 117-124. Date of Electronic Publication: 2024 Jan 19.

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Autor: Safran A; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Proskorovski-Ohayon R; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Eskin-Schwartz M; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Beer Sheva, Israel., Yogev Y; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Drabkin M; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Eremenko E; Department of Life Sciences and Shraga Segal Department of Microbiology, Immunology and Genetics, National Institute of Biotechnology in the Negev, Zlotowski Neuroscience Center and the Regenerative Medicine and Stem Cell Research Center, Ben-Gurion University, Beer Sheva, Israel., Aharoni S; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Freund O; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Jean MM; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Agam N; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Hadar N; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel., Loewenthal N; Pediatric Endocrinology Unit, Pediatric Division, Soroka Medical Center, Beer Sheva, Israel.; Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel., Staretz-Chacham O; Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.; Pediatric Metabolic Clinic, Pediatric Division, Soroka Medical Center, Ben-Gurion University, Beer Sheva, Israel., Birk OS; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Beer Sheva, Israel.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 744-755. Date of Electronic Publication: 2023 Feb 09.

Primitive layered gabbros from fast-spreading lower oceanic crust.

Autor: Gillis KM; School of Earth and Ocean Sciences, University of Victoria, PO Box 1700 Station CSC, Victoria, British Columbia V8W 2Y2, Canada., Snow JE; Earth and Atmospheric Sciences, University of Houston, 312 Science and Research Building 1, Houston, Texas 77204-5007, USA., Klaus A; United States Implementing Organization, Integrated Ocean Drilling Program, Texas A&M University, 1000 Discovery Drive, College Station, Texas 77845, USA., Abe N; Institute for Research on Earth Evolution, Japan Agency for Marine-Earth Science and Technology, 2-15 Natsushima-cho, Yokosuka 237-0061, Japan., Adrião AB; Institute of Geoscience, Rio Grande do Sul Federal University, Avenida Bento Gonçalves, 9500 Bloco I Prédio, 43113 Sala 207, Porto Alegre/RS 91501-970, Brazil., Akizawa N; Department of Earth Sciences, Kanazawa University, Kakuma-machi, Kanazawa Ishikawa 920-1192, Japan., Ceuleneer G; Observatoire Midi-Pyrénées (UMS 831), CNRS, Université Paul Sabatier, 14 Avenue Edouard Belin, Toulouse Cedex 31400, France., Cheadle MJ; Department of Geology and Geophysics, University of Wyoming, 1000 University Avenue, Department 3006, Laramie, Wyoming 82071, USA., Faak K; 1] School of Earth and Ocean Sciences, University of Victoria, PO Box 1700 Station CSC, Victoria, British Columbia V8W 2Y2, Canada [2] Institut für Geologie, Mineralogie, and Geophysik, Ruhr-Universität Bochum, Universitätsstrasse 150, 44780 Bochum, Germany., Falloon TJ; Institute for Marine and Antarctic Studies and School of Earth Sciences, University of Tasmania, Hobart, Tasmania 7001, Australia., Friedman SA; Department of Geology, Southern Illinois University at Carbondale, Carbondale, Illinois 62901, USA., Godard M; Géosciences Montpellier, Université Montpellier 2, CNRS UMR5243, CC 60, 34095 Montpellier Cedex 5, France., Guerin G; Borehole Research Group, Lamont-Doherty Earth Observatory of Columbia University, PO Box 1000, 61 Route 9W, Palisades, New York 10964, USA., Harigane Y; Institute of Geology and Geoinformation, Geological Survey of Japan, National Institute of Advanced Industrial Science and Technology, AIST Tsukuba Central 7, 1-1-1 Higashi, Tsukuba Ibaraki 305-8567, Japan., Horst AJ; Department of Geology, Oberlin College, Oberlin, Ohio 44074, USA., Hoshide T; Graduate School of Science, Tohoku University, Aoba-ku, Sendai 980-8578, Japan., Ildefonse B; Géosciences Montpellier, Université Montpellier 2, CNRS UMR5243, CC 60, 34095 Montpellier Cedex 5, France., Jean MM; Department of Geology and Environmental, Geosciences, Northern Illinois University, Davis Hall 312, Normal Road, DeKalb, Illinois 60115, USA., John BE; Department of Geology and Geophysics, University of Wyoming, 1000 University Avenue, Department 3006, Laramie, Wyoming 82071, USA., Koepke J; Institut für Mineralogie, University of Hannover, Callinstrasse 3, Hannover 30167, Germany., Machi S; Department of Earth Sciences, Kanazawa University, Kakuma-machi, Kanazawa Ishikawa 920-1192, Japan., Maeda J; Department of Natural History Sciences, Hokkaido University, North 10, West 8, Kita-ku, Sapporo, Hokkaido 060-0810, Japan., Marks NE; Chemistry and Material Sciences Department, Lawrence Livermore National Laboratory, PO Box 808, L-231, Livermore, California 94551, USA., McCaig AM; School of Earth and Environment, University of Leeds, Leeds LS2 9JT, UK., Meyer R; Centre for Geobiology and Department of Earth Science, University of Bergen, Allegaten 41, Bergen 5007, Norway., Morris A; School of Geography, Earth and Environmental Sciences, Plymouth University, Drake Circus, Plymouth PL4 8AA, UK., Nozaka T; Department of Earth Sciences, Okayama University, 3-1-1 Tsushima-naka, Okayama 700-8530, Japan., Python M; Department of Natural History Sciences, Hokkaido University, North 10, West 8, Kita-ku, Sapporo, Hokkaido 060-0810, Japan., Saha A; Department of Geology, University of Calcutta, 35 Ballygunge Circular Road, Kolkata 700 019, India., Wintsch RP; Department of Geological Sciences, Indiana University, 1001 East 10th Street, Bloomington, Indiana 47405, USA.

Publikováno v: Nature [Nature] 2014 Jan 09; Vol. 505 (7482), pp. 204-7. Date of Electronic Publication: 2013 Dec 01.