Farhad Karbassi

Farhad Karbassi

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Farhad Karbassi

Farhad Karbassi

Publications by authors named "Farhad Karbassi"

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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

CED-10/Rac1 regulates endocytic recycling through the RAB-5 GAP TBC-2.

PLoS Genet 2012 12;8(7):e1002785. Epub 2012 Jul 12.

Department of Molecular Biology and Biochemistry, Rutgers University, Piscataway, New Jersey, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395619PMC
January 2013

Hypoxia in early life is associated with lasting changes in left ventricular structure and function at maturity in the rat.

Int J Cardiol 2012 Apr 4;156(2):165-73. Epub 2010 Dec 4.

Division of Cardiovascular Surgery, Montréal Children's Hospital-McGill University Health Centre, Canada.

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http://dx.doi.org/10.1016/j.ijcard.2010.10.135DOI Listing
April 2012

Dissociation of the octameric enolase from S. pyogenes--one interface stabilizes another.

PLoS One 2010 Jan 21;5(1):e8810. Epub 2010 Jan 21.

Department of Chemistry and Biochemistry, Concordia University, Montreal, Quebec, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008810PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2809091PMC
January 2010