Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Minks KQ"'
Autor:
Mannucci I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Dang NDP; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA., Huber H; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany., Murry JB; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA., Abramson J; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA., Althoff T; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Baynam G; Faculty of Medicine and Health Sciences, University of Western Australia, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute, Perth, Australia., Bearden D; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Beleza-Meireles A; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France., Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Neurology, Haukeland University Hospital, Bergen, Norway., Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Chenbhanich J; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany., Escobar LF; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA., Estes C; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA., Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA., Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Holler-Managan Y; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Kellogg L; Kaiser Permanente Sacramento, Sacramento, USA., Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Kiraly-Borri C; Genetic Services of Western Australia, Perth, Western Australia, 6008, Australia., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Le Guyader G; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France., Ljungblad UW; Department of Pediatrics, Vestfold Hospital, 3116, Tønsberg, Norway., Brenman LM; Department of Genetics, Kaiser Permanente Northern California, Oakland, USA., Martinez-Agosto JA; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Semel Institute of Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA., Might M; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Minks KQ; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Moghaddam B; Kaiser Permanente Sacramento, Sacramento, USA., Nava C; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.; Center for Duchenne Muscular Dystrophy, University of California Los Angeles, Los Angeles, CA, USA., Parant JM; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Randrianaivo H; UF de Génétique Médicale, GHSR, CHU de La Réunion, Saint Pierre, La Réunion, France., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands., Shieh PB; Department of Neurology at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Smithson S; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Tomczak K; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Wang J; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA., Whitlock JH; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland., McWalter K; GeneDx, Gaithersburg, MD, 20877, USA., Juusola J; GeneDx, Gaithersburg, MD, 20877, USA., Quintero-Rivera F; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA., Fischer U; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany., Yeo NC; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA. nyeo@uab.edu., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. kreienkamp@uke.de., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de.
Publikováno v:
Genome medicine [Genome Med] 2021 May 21; Vol. 13 (1), pp. 90. Date of Electronic Publication: 2021 May 21.
Autor:
Gregory A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Lotia M; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas., Jeong SY; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Fox R; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Zhen D; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Sanford L; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Hamada J; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Jahic A; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany., Beetz C; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany., Freed A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Kurian MA; Developmental Neurosciences, GOSH-Institute of Child Health, UCL & Department of Neurology, Great Ormond Street Hospital, London, UK., Cullup T; North East Thames Regional Genetics Laboratory, London, UK., van der Weijden MCM; Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands., Nguyen V; Pathology, Oregon Health & Science University, Portland, Oregon., Setthavongsack N; Pathology, Oregon Health & Science University, Portland, Oregon., Garcia D; Pathology, Oregon Health & Science University, Portland, Oregon., Krajbich V; Pathology, Oregon Health & Science University, Portland, Oregon., Pham T; Pathology, Oregon Health & Science University, Portland, Oregon., Woltjer R; Pathology, Oregon Health & Science University, Portland, Oregon., George BP; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Minks KQ; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Departments of Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York., Hogarth P; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon., Jankovic J; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas., Hayflick SJ; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00736. Date of Electronic Publication: 2019 May 13.
Autor:
Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA. fitzgeraldmp@email.chop.edu., Fiannacca M; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark., Smith DM; Minnesota Epilepsy Group, Saint Paul, MN, USA., Gertler TS; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, Netherlands., Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Paediatrics, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., Stamberger H; Neurogenetics group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, and Institute Born Bunge, University of Antwerp, Antwerp, 2000, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, 2650, Belgium., Weckhuysen S; Neurogenetics group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, and Institute Born Bunge, University of Antwerp, Antwerp, 2000, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, 2650, Belgium., Ceulemans B; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, 2650, Belgium., Schoonjans AS; Neurogenetics Research Group, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium., Rossi M; Genetics department, Hospices Civils de Lyon, and Institut National de la Santé et de la Recherche Médicale U1028, Centre national de la recherche scientifique Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, GENDEV Team, Claude Bernard Lyon 1 University, Bron, 69500, France., Demarquay G; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Centre national de la recherche scientifique, Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, Auditory Cognition and Psychoacoustics Team, Lyon, 69003, France., Lesca G; Genetics department, Hospices Civils de Lyon, and Institut National de la Santé et de la Recherche Médicale U1028, Centre national de la recherche scientifique Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, GENDEV Team, Claude Bernard Lyon 1 University, Bron, 69500, France., Olofsson K; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103, Leipzig, Germany., Baulac S; Sorbonne Université, UPMC Univ Paris 06, Unité Mixte de Recherche S 1127, F-75013, Paris, France.; Institut National de la Santé et de la Recherche Médicale, U1127, F-75013, Paris, France.; Centre national de la recherche scientifique, Unité Mixte de Recherche 7225, F-75013, Paris, France.; Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013, Paris, France.; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013, Paris, France., Rubboli G; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark.; University of Copenhagen, Copenhagen, 1165, Denmark., Minks KQ; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Lee B; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA., Dlugos D; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA., Møller RS; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark.; Institute for Regional Health Research, University of Southern Denmark, Odense, 5230, Denmark., Bearden D; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA.
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2019 Jul; Vol. 16 (3), pp. 848-857.
Autor:
Lee BH; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Reijnders MRF; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Abubakare O; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York., Tuttle E; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York., Lape B; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York., Minks KQ; Department of Neurology, University of Rochester Medical Center, Rochester, New York., Stodgell C; Department of Obstetrics and Gynecology, University of Rochester Medical Center, Rochester, New York., Bennetto L; Department of Clinical and Social Sciences in Psychology, University of Rochester, Rochester, New York., Kwon J; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York., Fong CT; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York., Gripp KW; A.I. du Pont Hospital for Children/Nemours, Wilmington, Delaware., Marsh ED; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, and Pediatric Regional Epilepsy Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Smith WE; Department of Pediatrics, Maine Medical Center, Portland, Maine., Huq AM; Departments of Pediatrics and Neurology, Wayne State University, Children's Hospital of Michigan, Detroit, Michigan., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Solis O; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York., Mehta RI; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York., Leventer RJ; The Royal Children's Hospital Department of Neurology, University of Melbourne, Department of Pediatrics and the Murdoch Children's Hospital Institute, Melbourne, Victoria, Australia., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.; Faculty of Medicine, Wessex Clinical Genetics Service, Princess Anne Hospital, University of Southampton, Southampton, Hampshire, UK., Hunt D; Faculty of Medicine, Wessex Clinical Genetics Service, Princess Anne Hospital, University of Southampton, Southampton, Hampshire, UK., Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.; Departments of Neuroscience and Biomedical Genetics, University of Rochester Medical Center, Rochester, New York.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Jan; Vol. 176 (1), pp. 56-67. Date of Electronic Publication: 2017 Nov 17.