Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Au MG"'
Autor:
Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Panasenkava V; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Denommé-Pichon AS; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France., Keren B; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Mignot C; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Doco-Fenzy M; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France., Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mitchell WG; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA., Ozmore JR; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA., Juliette K; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Normand EA; GeneDx, Gaithersburg, MD 20877, USA., Granger L; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Petersen AK; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Au MG; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Matheny JP; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA., Chambers MK; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA., Fernández-Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Zollino M; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy., Marangi G; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Louie RJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Childers A; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Everman DB; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Isidor B; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France., Audebert-Bellanger S; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France., Odent S; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France., Bonneau D; Department of Medical Genetics, University Hospital of Angers and Mitovasc INSERM 1083, CNRS 6015, Angers 49000, France., Gilbert-Dussardier B; Medical Genetics, University Hospital, La Milétrie, BP 577, Poitiers 86021, France., Redon R; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France., Bézieau S; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Medical Genetics Service, University Hospital of Nantes, Nantes 44093, France., Laumonnier F; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Stoeckli ET; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Toutain A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Vuillaume ML; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3325-3340.
Autor:
Au MG; Kentucky Children's Hospital, University of Kentucky HealthCare, Lexington, Kentucky, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep; Vol. 185 (9), pp. 2630-2632. Date of Electronic Publication: 2021 Mar 05.
Autor:
Dwyer AA; Boston College William F. Connell School of Nursing, Chestnut Hill, MA, USA.; Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Au MG; Division of Genetics and Metabolism, University of Kentucky Children's Hospital, Lexington, KY, USA., Smith N; International Patient Support Group for Hypogonadotropic Hypogonadism (HYPOHH), London, UK., Plummer L; Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Lippincott MF; Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Balasubramanian R; Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Seminara SB; Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2021 Apr; Vol. 30 (2), pp. 598-605. Date of Electronic Publication: 2020 Oct 24.
Autor:
Otero MG; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California., Tiongson E; Division of Neurology Children's Hospital of Los Angeles Los Angeles California., Diaz F; Department of Neurology Cedars-Sinai Medical Center Los Angeles California., Haude K; GeneDx Gaithersburg Maryland., Panzer K; Department of Pediatrics University of Iowa Stead Family Children's Hospital Iowa City Iowa., Collier A; Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada., Kim J; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California., Adams D; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Tifft CJ; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Cui H; GeneDx Gaithersburg Maryland., Millian Zamora F; GeneDx Gaithersburg Maryland., Au MG; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California., Graham JM Jr; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California., Buckley DJ; Department of Pediatrics Janeway Health Centre St. John's Newfoundland and Labrador Canada., Lewis R; Department of Neurology Cedars-Sinai Medical Center Los Angeles California., Toro C; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Bai R; GeneDx Gaithersburg Maryland., Turner L; Faculty of Medicine Memorial University of Newfoundland St. John's Newfoundland Canada., Mathews KD; Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada.; Department of Neurology University of Iowa Stead Family Children's Hospital Iowa City Iowa., Gahl W; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Pierson TM; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.; Department of Neurology Cedars-Sinai Medical Center Los Angeles California.; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2018 Nov 09; Vol. 6 (1), pp. 154-160. Date of Electronic Publication: 2018 Nov 09 (Print Publication: 2019).
Autor:
Sahai SK; Department of Neurology Cedars-Sinai Medical Center Los Angeles California., Steiner RE; Department of Microbiology Ohio State University Columbus Ohio 43210.; Center for RNA Biology Ohio State University Columbus Ohio 43210.; Ohio State Biochemistry Program Ohio State University Columbus Ohio 43210., Au MG; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California., Graham JM; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California., Salamon N; Department of Radiological Sciences David Geffen School of Medicine University of California Los Angeles Los Angeles California., Ibba M; Department of Microbiology Ohio State University Columbus Ohio 43210.; Center for RNA Biology Ohio State University Columbus Ohio 43210.; Ohio State Biochemistry Program Ohio State University Columbus Ohio 43210., Pierson TM; Department of Neurology Cedars-Sinai Medical Center Los Angeles California.; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California.; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2018 Aug 14; Vol. 5 (9), pp. 1128-1133. Date of Electronic Publication: 2018 Aug 14 (Print Publication: 2018).
Autor:
Flex E; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Cecchetti S; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA., Au MG; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Capuano A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Piermarini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Ivanova AA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Francis JW; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Chillemi G; CINECA, SCAI-SuperComputing Applications and Innovation Department, Rome 00185, Italy., Chandramouli B; Scuola Normale Superiore, 56126 Pisa, Italy., Carpentieri G; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy; Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome 00161, Italy., Haaxma CA; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Centro di Ricerca per gli alimenti e la nutrizione, CREA, Rome 00178, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Douglas GV; GeneDx, Gaithersburg, MD 20877, USA., Levine K; GeneDx, Gaithersburg, MD 20877, USA., Sferra A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Pfundt RR; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Le Pichon JB; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO 64108, USA., Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam 1105, the Netherlands., Piemonte F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA., Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Kahn RA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 962-973. Date of Electronic Publication: 2016 Sep 22.
Autor:
Avbelj Stefanija M; Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston 02114, MA, USA., Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2012 Oct 01; Vol. 21 (19), pp. 4314-24. Date of Electronic Publication: 2012 Jul 05.
Autor:
Gianetti E; Harvard Center for Reproductive Sciences and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, BHX 504, Boston, Massachusetts 02114, USA., Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL, Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF Jr, Plummer L, Seminara SB
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2012 Sep; Vol. 97 (9), pp. E1798-807. Date of Electronic Publication: 2012 Jun 28.
Autor:
Lewkowitz-Shpuntoff HM; Harvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, Massachusetts 02114, USA., Hughes VA, Plummer L, Au MG, Doty RL, Seminara SB, Chan YM, Pitteloud N, Crowley WF Jr, Balasubramanian R
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2012 Jan; Vol. 97 (1), pp. E136-44. Date of Electronic Publication: 2011 Nov 09.
Autor:
Au MG; Harvard Reproductive Endocrine Sciences Center & Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Crowley WF Jr, Buck CL
Publikováno v:
Molecular and cellular endocrinology [Mol Cell Endocrinol] 2011 Oct 22; Vol. 346 (1-2), pp. 102-9. Date of Electronic Publication: 2011 Jun 01.