Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Al-Shekaili HH"'
Autor:
Van Raamsdonk JM; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, H3A 2B4, Canada.; Metabolic Disorders and Complications (MeDiC) and Brain Repair and Integrated Neuroscience (BRaIN) Programs, Research Institute of the McGill University Health Centre, Montreal, QC, H4A 3J1, Canada.; Division of Experimental Medicine, McGill University, Montreal, QC, H3A 2B4, Canada., Al-Shekaili HH; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Wagner L; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Bredy TW; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.; Queensland Brain Institute, University of Queensland, St. Lucia, Queensland, QLD 4072, Australia.., Chan L; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Pearson J; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Schwab C; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Murphy Z; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Devon RS; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Lu G; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Kobor MS; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Hayden MR; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada., Leavitt BR; Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
Publikováno v:
Aging and disease [Aging Dis] 2023 Dec 01; Vol. 14 (6), pp. 2249-2266. Date of Electronic Publication: 2023 Dec 01.
Autor:
Engelke UF; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., van Outersterp RE; Institute for Molecules and Materials, FELIX Laboratory and., Merx J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands., van Geenen FA; Institute for Molecules and Materials, FELIX Laboratory and., van Rooij A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Berden G; Institute for Molecules and Materials, FELIX Laboratory and., Huigen MC; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Kluijtmans LA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Peters TM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Al-Shekaili HH; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia Vancouver, British Columbia, Canada., Leavitt BR; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia Vancouver, British Columbia, Canada., de Vrieze E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Broekman S; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., van Wijk E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Tseng LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, Netherlands., Kulkarni P; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Rutjes FP; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands., Mecinović J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands.; Department of Physics, Chemistry and Pharmacy, University of Southern Denmark, Odense, Denmark., Struys EA; Department of Clinical Chemistry, Amsterdam University Medical Centers, location VU Medical Centre, Amsterdam, Netherlands., Jansen LA; Division of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Hyland K; Medical Neurogenetics Laboratories, Atlanta, Georgia, USA., Willemsen MA; Department of Pediatric Neurology, Radboud University Medical Centre, Nijmegen, Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, Netherlands.; Department of Pediatrics-Metabolic Diseases, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; United for Metabolic Diseases (UMD), Netherlands., Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Boltje TJ; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands., Oomens J; Institute for Molecules and Materials, FELIX Laboratory and.; Van't Hoff Institute for Molecular Sciences, University of Amsterdam, Amsterdam, Netherlands., Martens J; Institute for Molecules and Materials, FELIX Laboratory and., Coene KL; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2021 Aug 02; Vol. 131 (15).
Autor:
Al-Shekaili HH; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Petkau TL; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Pena I; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA., Lengyell TC; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Verhoeven-Duif NM; Department of Genetics, University Medical Center, Utrecht, The Netherlands., Ciapaite J; Department of Genetics, University Medical Center, Utrecht, The Netherlands., Bosma M; Department of Genetics, University Medical Center, Utrecht, The Netherlands., van Faassen M; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Kema IP; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Horvath G; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Ross C; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Simpson EM; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Friedman JM; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., van Karnebeek C; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Research Institute, University of British Columbia, Vancouver, BC, Canada.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Leavitt BR; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3266-3284.
Autor:
Johnstone DL; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Al-Shekaili HH; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Tarailo-Graovac M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia.; Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Wolf NI; Department of Child Neurology, Amsterdam University Medical Centres, Amsterdam Neuroscience, Amsterdam, The Netherlands., Ivy AS; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA, USA., Demarest S; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Children's Hospital Colorado, CO, USA., Roussel Y; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Ciapaite J; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands., van Roermund CWT; Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Kosuta C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Ban K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Ito Y; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., McBride S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Al-Thihli K; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Abdelrahim RA; Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman., Koul R; Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Al Futaisi A; Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute of Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Olson H; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA, USA., Sigurdardottir LY; Department of Neurology, University of Central Florida, Nemours Children's Hospital, Orlando, FL, USA., Arnold GL; Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburg, PA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Boon M; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Noble S; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Bosma M; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands., Jans J; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; United for Metabolic Diseases, The Netherlands., Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kamsteeg EJ; Genome Diagnostics Nijmegen, Nijmegen, The Netherlands., Drögemöller B; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Ross CJ; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Majewski J; McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Cho MT; GeneDx Inc., Gaithersburg, MD, USA., Begtrup A; GeneDx Inc., Gaithersburg, MD, USA., Wasserman WW; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Bui T; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA., Violante S; Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Houten SM; Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Wevers RA; United for Metabolic Diseases, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Faassen M; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Kema IP; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Lepage N; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Lines MA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Wanders RJA; Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; United for Metabolic Diseases, The Netherlands., Verhoeven-Duif N; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; United for Metabolic Diseases, The Netherlands., Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Pena IA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., van Karnebeek CDM; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; United for Metabolic Diseases, The Netherlands.; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Publikováno v:
Brain : a journal of neurology [Brain] 2019 Mar 01; Vol. 142 (3), pp. 542-559.