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pro vyhledávání: '"Lamont RE"'
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Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Gillesse E; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Wade A; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Canada., Parboosingh JS; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Au PYB; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada., Bernier FP; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada., Lamont RE; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Innes AM; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63789. Date of Electronic Publication: 2024 Jun 25.
Autor:
Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address: vandana.shashi@duke.edu., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC., Ganetzky R; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA., Kranz PG; Division of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, NC., Sondheimer N; Synlogic Therapeutics, Boston, MA., Markert ML; Department of Pediatrics, Duke University School of Medicine, Durham, NC; Department of Immunology, Duke University Medical Center, Durham, NC., Cope H; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC; Duke Precision Medicine Program, Department of Medicine, Division of General Internal Medicine, Duke University Medical Center, Durham, NC., Roehrs P; Pediatric Stem Cell Transplant and Cellular Therapy, Department of Pediatrics, University of Virginia, Charlottesville, VA., Arbogast T; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Muraresku C; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Tyndall AV; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Esser MJ; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Woodward KE; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Ping-Yee Au B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Bernier FP; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Wright NAM; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Benseler SM; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Parsons SJ; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., El-Dairi M; Department of Ophthalmology, Duke University Medical Center, Durham, NC., Smith EC; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC., Valdez P; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Tennison M; Department of Neurology, University of North Carolina at Chapel Hill, NC., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: Micheil.innes@ahs.ca., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: eridavis@luriechildrens.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Sep; Vol. 25 (9), pp. 100897. Date of Electronic Publication: 2023 May 13.
Autor:
Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Smith AC; CHEO Research Institute, Ottawa, Ontario, Canada., Mayers J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Tomaszewski R; Alberta Precision Laboratories, Edmonton, Alberta, Canada., Taylor S; Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Hume S; Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Agatep R; Shared Health, Winnipeg, Manitoba, Canada.; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Spriggs E; Shared Health, Winnipeg, Manitoba, Canada.; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Feilotter HE; Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., Semenuk L; Kingston Health Sciences Centre, Kingston, Ontario, Canada., Wong H; Kingston Health Sciences Centre, Kingston, Ontario, Canada., Lazo de la Vega L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Marshall CR; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Axford MM; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Silver T; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada., Charames GS; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Di Gioacchino V; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Watkins N; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Foulkes WD; Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Clavier M; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Hamel N; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Chong G; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Lamont RE; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada., Parboosingh J; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada., Karsan A; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Bosdet I; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada., Young SS; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada., Tucker T; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada., Akbari MR; Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Speevak MD; Trillium Health Partners, Mississauga, Ontario, Canada., Vaags AK; Trillium Health Partners, Mississauga, Ontario, Canada., Lebo MS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada jordan.lerner-ellis@sinaihealth.ca.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 571-578. Date of Electronic Publication: 2021 Apr 19.
Autor:
Blackwell DL; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB T2N 4N1, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada., Fraser SD; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB T2N 4N1, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada., Vivori C; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona 08003, Spain.; Universitat Pompeu Fabra (UPF), Barcelona 08002, Spain., Tyndall AV; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Lamont RE; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Parboosingh JS; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Bernier FP; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Childs SJ; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB T2N 4N1, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Publikováno v:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2022 May 06; Vol. 12 (5).
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
Autor:
Zhou JR; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada., Ridsdale R; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., MacNeil L; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Lilley M; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Hoang S; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Christian S; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Blumenschein P; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Wolan V; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada., Bruce A; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada., Singh G; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada., Wright N; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada., Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.; Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.; Alberta Children's Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Sosova I; Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada.; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2021 Nov 16; Vol. 7 (4). Date of Electronic Publication: 2021 Nov 16.
Autor:
Sterling N; Department of Anatomy and Cell Biology, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine. Temple University, Philadelphia, PA, 19140, USA., Duncan AR; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Park R; Department of Anatomy and Cell Biology, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine. Temple University, Philadelphia, PA, 19140, USA., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Shi J; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong, Hong Kong SAR., Cho SH; Department of Anatomy and Cell Biology, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine. Temple University, Philadelphia, PA, 19140, USA., Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Grant PE; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA., Genetti CA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., VanNoy GE; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Juusola J; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., McWalter K; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1A4, Canada., Lamont RE; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1A4, Canada., Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1A4, Canada., Smith C; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1A4, Canada., Harris DJ; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1A4, Canada., Kim S; Department of Anatomy and Cell Biology, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine. Temple University, Philadelphia, PA, 19140, USA., Agrawal PB; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 Dec 18; Vol. 29 (20), pp. 3388-3401.