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Autor:
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN, Alders M, Robertson SP, Sadikovic B, Menke LA
Publikováno v:
HGG advances [HGG Adv] 2024 Sep 21; Vol. 5 (4), pp. 100337. Date of Electronic Publication: 2024 Sep 21.
Autor:
Jones AG; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Aquilino M; Neuroscience Center, HiLIFE - Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Tinker RJ; Vanderbilt University Medical Center, Nashville, TN, USA., Duncan L; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA., Jenkins Z; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Carvill GL; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., DeWard SJ; GeneDx, Gaithersburg, MD, USA., Grange DK; Washington University, St. Louis, Missouri, USA., Hajianpour MJ; Albany Medical College, Albany, NY, USA., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Holder-Espinasse M; Department of Clinical Genetics, Guys Hospital, London, UK., Horvath J; Münster University Hospital, Münster, Germany., Maitz S; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Morleo M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Paul V; Münster University Hospital, Münster, Germany., Spencer C; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; Department of Medicine, Division of Human Genetics, Groote Schuur Hospital, Cape Town, South Africa., Esterhuizen AI; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; Neuroscience Institute, University of Cape Town, Cape Town, South Africa; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa., Polster T; Department of Epileptology (Krankenhaus Mara, Bethel Epilepsy Center) Medical School OWL, Bielefeld University, Bielefeld, Germany., Spano A; Maggiore Della Carità Hospital, Novara, Italy., Gómez-Lozano I; Neuroscience Center, HiLIFE - Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Kumar A; Centre for Protein Research, University of Otago, Dunedin, New Zealand., Poke G; Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Phillips JA 3rd; Vanderbilt University Medical Center, Nashville, TN, USA., Underhill HR; University of Utah, Salt Lake City, UT, USA., Gimenez G; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Namba T; Neuroscience Center, HiLIFE - Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. Electronic address: stephen.robertson@otago.ac.nz.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 729-741.
Autor:
Halliday BJ; From the Departments of Women's and Children's Health (B.J.H., S.P.R.) benjamin.halliday@otago.ac.nz., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia (G.B.), Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia., Ewans L; Centre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia.; Centre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia., Greenhalgh L; Liverpool Centre for Genomic Medicine (L.G.), Liverpool Women's Hospital, Liverpool, England., Leventer RJ; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Department of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre.; Departments of Neurology (R.J.L., I.E.S.)., Pilz DT; West of Scotland Genetics Service (D.T.P.), Queen Elizabeth University Hospital, Glasgow, UK., Sachdev R; Centre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia., Scheffer IE; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Department of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre.; Austin Health (I.E.S.).; Florey Institute (I.E.S.), University of Melbourne, Melbourne, Australia.; Departments of Neurology (R.J.L., I.E.S.)., Markie DM; Pathology (D.M.M.), OtagoMedical School, University of Otago, Dunedin, New Zealand., McGillivray G; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Victorian Clinical Genetics Services (G.M.), Murdoch Children's Research Institute, Melbourne, Australia., Robertson SP; From the Departments of Women's and Children's Health (B.J.H., S.P.R.)., Mandelstam S; Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.; Department of Paediatrics (R.J.L., I.E.S., S.M.), Epilepsy Research Centre.; Radiology (S.M.), Royal Children's Hospital, Melbourne, Australia.
Publikováno v:
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2022 Nov; Vol. 43 (11), pp. 1660-1666. Date of Electronic Publication: 2022 Oct 13.
Autor:
Pham DH; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Pitman MR; Molecular Therapeutics, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia., Kumar R; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Jolly LA; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Schulz R; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Gardner AE; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., de Nys R; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Heron SE; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Corbett MA; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Kothur K; Department of Paediatrics and Child Health, Kids Neuroscience Centre, The University of Sydney, Sydney, New South Wales, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Gill D; Department of Paediatrics and Child Health, Kids Neuroscience Centre, The University of Sydney, Sydney, New South Wales, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Kolc KL; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Regan BM; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia., Kirsch HE; Department of Neurology, University of California, San Francisco, California, USA., Berkovic SF; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia., Scheffer IE; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Flemington, Victoria, Australia.; Epilepsy Research Centre, Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia., Pitson SM; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Molecular Therapeutics, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.; School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia., Petrovski S; Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge, UK.; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia., Gecz J; Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Women and Kids, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2021 Aug; Vol. 42 (8), pp. 1030-1041. Date of Electronic Publication: 2021 Jun 15.
Autor:
Chopra M; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: maya.chopra@childrens.harvard.edu., McEntagart M; Department of Medical Genetics, St George's University Hospitals NHS FT, London SW17 ORE, UK., Clayton-Smith J; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9WL, UK., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India., Kaur A; Genetics Metabolic Unit, Department of Pediatrics, PGIMER, Chandigarh 160012, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Veenstra-Knol H; Department of Genetics University of Groningen, University Medical Centre Groningen, Groningen CB50, the Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Kortüm F; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Hempel M; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Denecke J; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands., Wilke M; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Bebin EM; University of Alabama at Birmingham, Department of Neurology and Pediatrics, Birmingham, AL 35294, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands., Peeters-Scholte C; Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands., Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94158, USA., Weiss WA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94110, USA., Yip T; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Hodoglugil U; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Whittle A; Department of Pediatrics, Zuckerberg San Francisco General, San Francisco, UCSF, San Francisco, CA 94143, USA., diMonda J; Department of Human Genetic, Emory University, Atlanta, GA 30322, USA., Neira J; Department of Human Genetic, Emory University, Atlanta, GA 30322, USA., Yang S; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Kirby A; Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Pinz H; Division of Medical Genetics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Lechner R; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands., Sleutels F; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA., McKeown S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA., Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA., Willaert R; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Juusola J; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Semotok J; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Hadonou M; St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK., Short J; St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK., Yachelevich N; NYU Clinical Genetics Services, 145 E 32(nd) St PH, New York, NY 10016, USA., Lala S; Division of Clinical Genetics, Nickelaus Children's Health System, 3100 SW 62(nd) Avenue, Coral Gables, FL 33155, USA., Fernández-Jaen A; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid and Universidad Complutense, Madrid 28224, Spain., Pelayo JP; Genologica Center, Málaga 29016, Spain., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany., Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany., Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig 04129, Germany., Innes AM; Department of Medical Genetics and Albert Children's Hospital Research Institute, Cumming School of Medicine, Calgary, AB T3B 6A8, Canada., Niskakoski A; Blueprint Genetics, Keilaranta 16 A-B, 02150 Espoo, Finland., Amin S; WE Genomic Medicine Centre, University Hospitals Bristol NHS Foundation Trust, Bristol B52 8EG, UK., Williams M; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol BS10 5NB, UK., Evans J; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol BS10 5NB, UK., Smithson S; WE Genomic Medicine Centre, University Hospitals Bristol NHS Foundation Trust, Bristol B52 8EG, UK., Smedley D; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK., de Burca A; Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK., Kini U; Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK., Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Pais L; Broad Institute - Center for Mendelian Genomics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Field M; NSW Genetics of Learning Disability Service, Waratah, NSW 2298, Australia., Martin E; NSW Genetics of Learning Disability Service, Waratah, NSW 2298, Australia., Charles P; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France., Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France., Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo 24127, Italy., Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo 24127, Italy., Poke G; Genetic Health Service, New Zealand, Central Hub Wellington Hospital, Wellington 6242, New Zealand., Abadie V; Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Centre de référence du syndrome de Pierre Robin et troubles de succion-déglutition congénitaux (SPRATON), Paris 75015, France., Chalouhi C; Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Centre de référence du syndrome de Pierre Robin et troubles de succion-déglutition congénitaux (SPRATON), Paris 75015, France., Parthasarathy P; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Lyonnet S; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France., Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France., Gordon CT; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France. Electronic address: chris.gordon@inserm.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1138-1150. Date of Electronic Publication: 2021 Apr 27.
Autor:
Bach A; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, MI, USA., Mi J; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand., Hunter M; Monash Genetics, Monash Medical Centre, Melbourne, VIC, Australia.; Department of Paediatrics, Monash University, Melbourne, VIC, Australia., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand., García-Miñaúr S; Instituto de Genética Médica y Molecular, La Paz University Hospital, Madrid, Spain., Sperotto F; Department of Women's and Children's Health, Padova University, Padova, Italy., Trevisson E; Institute of Pediatric Research Città della Speranza, Clinical Genetics and Epidemiology Laboratory, Padova University, Padova, Italy.; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Markie D; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand., Morison IM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MI, USA., Willis DN; Division of Hematology/Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, MI, USA., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand. stephen.robertson@otago.ac.nz.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 396-401. Date of Electronic Publication: 2020 Sep 02.
Autor:
Mi J; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Parthasarathy P; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Morgan T; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Dean J; North of Scotland Regional Genetics Service, NHS Grampian, Ashgrove House, Foresterhill, Aberdeen AB25 2ZA, UK., Nowaczyk MJM; Department of Pathology and Molecular Medicine, Health Sciences Centre, McMaster University, Hamilton, ON L8S 4K1, Canada., Markie D; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Wade EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Publikováno v:
Genes [Genes (Basel)] 2020 Nov 30; Vol. 11 (12). Date of Electronic Publication: 2020 Nov 30.
Autor:
Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Parthasarathy P; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Zorndt D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., McKeown C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia., Sampaio H; Department of Women and Children's Health, University of New South Wales, Randwick Campus, Randwick, NSW, Australia.; Sydney Children's Hospital, Randwick, NSW, Australia., Radhakrishnan N; Department of Ophthalmology, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Radhakrishnan SK; Department of Neurology, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Gorce M; Department of Metabolic Disease, Children University Hospital, Toulouse, France., Navet B; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.; MitoLab, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers, France., Ziegler A; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.; MitoLab, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers, France., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Publikováno v:
Human mutation [Hum Mutat] 2020 Sep; Vol. 41 (9), pp. 1645-1661. Date of Electronic Publication: 2020 Jul 15.
Autor:
Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California., Dastsooz H; Department of Life Sciences and Systems Biology, Italian Institute for Genomic Medicine (IIGM), University of Turin, Turin, Italy.; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Silawi M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Jahan SB; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Fard MAF; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Raymond K; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota., Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California.; Division of Medical Genetics, Department of Pediatrics, Stanford Medicine, Stanford, California., Tabatabaei Z; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Taghipour-Sheshdeh A; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran., Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Faghihi MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, Florida., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Jul; Vol. 43 (4), pp. 871-879. Date of Electronic Publication: 2020 Feb 23.