Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Loos MA"'
Autor:
Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Kim SH; Goodman Cancer Institute, McGill University, Montreal, Canada; Department of Biochemistry, McGill University, Montreal, Canada., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Landsverk M; University of South Dakota Sanford School of Medicine Sioux Falls, SD; Sanford Research, Pediatrics and Rare Diseases Group, Sioux Falls, SD., Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Srinivasan VM; Indira Gandhi Institute of Child Health, Bangalore, India., Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Schaefer GB; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR., Davis M; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR., Tonduti D; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Doneda C; Pediatric Radiology and Neuroradiology Department, Children's Hospital Vittore Buzzi, Milan, Italy., Marten LM; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany., Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany., Gomez M; Centro de Obsetricia y Ginecologia & Centro Medico Moderno, Santo Domingo, Dominican Republic., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mena R; Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Centro de Obsetricia y Ginecologia, Santo Domingo, Dominican Republic., Nizon M; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Procaccio V; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France; Department of Genetics, CHU Angers, Angers, France., Begtrup A; GeneDx, Gaithersburg, MD., Telegrafi A; GeneDx, Gaithersburg, MD., Cui H; GeneDx, Gaithersburg, MD., Schulz HL; Human Genetic center Tübingen, Baden-Württemberg, Germany., Mohr J; Human Genetic center Tübingen, Baden-Württemberg, Germany., Biskup S; Human Genetic center Tübingen, Baden-Württemberg, Germany; CeGaT GmbH, Germany., Loos MA; Department of Neurology, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina., Aráoz HV; Genomics Laboratory, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Keppen LD; University of South Dakota Sanford School of Medicine Sioux Falls, SD; Sanford Research, Pediatrics and Rare Diseases Group, Sioux Falls, SD., Chitre M; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Raymond L; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Vogt J; West Midlands Regional Genetics Service, Birmingham Women and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Sawyer LB; Children's Hospital of the King's Daughters, Norfolk, Virginia, VA., Basinger AA; Children's Hospital of the King's Daughters, Norfolk, Virginia, VA., Pedersen SV; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; Center for the Investigation of Membrane Excitability Diseases (CIMED), St. Louis, MO., Lingappa L; Rainbow Children Hospital, Hyderabad, India., McDunnah P; Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom., Cognè B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France., Hahn A; Department of Child Neurology, University Hospital, Gießen, Germany., Gripp KW; Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE., Jafarnejad SM; Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert Lurie Children's Hospital of Chicago, Chicago; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago; Fundacion Cardiovascular de Colombia, Floridablanca, Colombia., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Gowda VK; Indira Gandhi Institute of Child Health, Bangalore, India., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University, Newcastle upon Tyne, United Kingdom., Sonenberg N; Goodman Cancer Institute, McGill University, Montreal, Canada; Department of Biochemistry, McGill University, Montreal, Canada., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Sissler M; ARNA - UMR5320 CNRS - U1212 INSERM, Université de Bordeaux, IECB, Pessac, France., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK. Electronic address: gauravvarshney@omrf.org., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100938. Date of Electronic Publication: 2023 Jul 13.
Publikováno v:
Yearbook of Paediatric Endocrinology.
Autor:
Veneruzzo GM; Laboratory of Genomics; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Loos MA; Department of Neurology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Armeno M; Department of Nutrition. Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Alonso CN; Laboratory of Genomics; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Caraballo RH; Department of Neurology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Publikováno v:
Archivos argentinos de pediatria [Arch Argent Pediatr] 2023 Feb 01; Vol. 121 (1), pp. e202202677. Date of Electronic Publication: 2022 Nov 03.
Autor:
Kastelijn JB; Department of Gastroenterology and Hepatology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, CX 3584, the Netherlands., van der Loos MA; Department of Internal Medicine, Amsterdam University Medical Center, De Boelelaan 1117, Amsterdam, HV 1081, the Netherlands., Welsing PM; Division of Internal Medicine and Dermatology, Univeristy Medical Center Utrecht, Heidelberglaan 100, Utrecht, CX 3584, the Netherlands., Dhondt E; Department of Vascular and Interventional Radiology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent 9000, Belgium., Koopman M; Department of Medical Oncology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, CX 3584, the Netherlands., Moons LM; Department of Gastroenterology and Hepatology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, CX 3584, the Netherlands., Vleggaar FP; Department of Gastroenterology and Hepatology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, CX 3584, the Netherlands. Electronic address: f.vleggaar@umcutrecht.nl.
Publikováno v:
European journal of internal medicine [Eur J Intern Med] 2021 Jun; Vol. 88, pp. 81-88. Date of Electronic Publication: 2021 Apr 27.
Autor:
van der Loos MA; Department of Endocrinology and Center of Expertise on Gender Dysphoria, Amsterdam University Medical Center, Amsterdam, the Netherlands., Hellinga I; Department of Pediatrics, Zaans Medical Center, Zaandam, the Netherlands., Vlot MC; Department of Endocrinology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Department of Internal Medicine, Hospital St Jansdal, Harderwijk/Lelystad, the Netherlands., Klink DT; Division of Pediatric Endocrinology, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium., den Heijer M; Department of Endocrinology and Center of Expertise on Gender Dysphoria, Amsterdam University Medical Center, Amsterdam, the Netherlands., Wiepjes CM; Department of Endocrinology and Center of Expertise on Gender Dysphoria, Amsterdam University Medical Center, Amsterdam, the Netherlands.
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2021 May; Vol. 36 (5), pp. 931-941. Date of Electronic Publication: 2021 Feb 17.
Autor:
Zhang, Shujie1 (AUTHOR), Qin, Haisong1 (AUTHOR), Wang, Qingming2 (AUTHOR), Wang, Yingfei1 (AUTHOR), Liu, Yanhui3 (AUTHOR), Yang, Qi1 (AUTHOR), Luo, Jingsi1 (AUTHOR), Qin, Zailong1 (AUTHOR), Ji, Xiang4 (AUTHOR), Kan, Lijuan4 (AUTHOR), Geng, Guoxing1 (AUTHOR), Huang, Jing1 (AUTHOR), Wei, Shengkai1 (AUTHOR), Chen, Qiuli1 (AUTHOR), Shen, Yiping1,5 (AUTHOR), Yuan, Haiming2 (AUTHOR) haimingyuan@sina.cn, Lai, Baoling3 (AUTHOR) angell_hood95@sina.com
Publikováno v:
Orphanet Journal of Rare Diseases. 10/11/2024, Vol. 19 Issue 1, p1-6. 6p.
Autor:
Loos MA; Department of Neurology, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Gomez G; Genomics Laboratory, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Mayorga L; Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET), Centro Universitario UNCuyo, 5500 Mendoza, Argentina., Caraballo RH; Department of Neurology, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Eiroa HD; Department of Inborn Errors of Metabolism, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires, 1245, Argentina., Obregon MG; Department of Medical Genetics, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Rugilo C; Department of DiagnosticImaging, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Lubieniecki F; Department of Pathology, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Taratuto AL; Neuropathology and Neuromuscular Diseases Laboratory, Buenos Aires, Argentina., Saccoliti M; Neuropathology and Neuromuscular Diseases Laboratory, Buenos Aires, Argentina., Alonso CN; Genomics Laboratory, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina., Aráoz HV; Department of Medical Genetics, Hospital de Pediatría 'Juan P. Garrahan', Combate de los Pozos 1881, Buenos Aires 1245, Argentina.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Feb 25; Vol. 27, pp. 100733. Date of Electronic Publication: 2021 Feb 25 (Print Publication: 2021).
Autor:
Sun, Li1,2 (AUTHOR), Yang, Nanyan1 (AUTHOR), Liu, Zhihong1 (AUTHOR), Ye, Xiandong1 (AUTHOR), Cheng, Mengting1 (AUTHOR), Deng, Lingjun1 (AUTHOR), Zhang, Junhao1 (AUTHOR), Wu, Jingjing3 (AUTHOR), Shi, Min1 (AUTHOR), Liao, Wangjun1,4 (AUTHOR) nfyyliaowj@163.com
Publikováno v:
Journal of Biomedical Science. 6/29/2024, Vol. 31 Issue 1, p1-21. 21p.
Autor:
Mayorga L; Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET)-Centro Universitario UNCuyo, 5500, Mendoza, Argentina. liamayorga@fcm.uncu.edu.ar., Salassa BN; Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET)-Centro Universitario UNCuyo, 5500, Mendoza, Argentina.; Facultad de Odontología, Univeridad Nacional de Cuyo- Centro Universitario UNCuyo, 5500, Mendoza, Argentina., Marzese DM; John Wayne Cancer Institute, 2200 Santa Monica Boulevard, Santa Monica, CA, 90404, USA., Loos MA; Hospital de Pediatría J.P. Garrahan, Combate de los Pozos 1881, 1245, Buenos Aires, Argentina., Eiroa HD; Hospital de Pediatría J.P. Garrahan, Combate de los Pozos 1881, 1245, Buenos Aires, Argentina., Lubieniecki F; Hospital de Pediatría J.P. Garrahan, Combate de los Pozos 1881, 1245, Buenos Aires, Argentina., García Samartino C; Facultad de Ciencias Médicas, Universidad Nacional de Cuyo-Centro Universitario UNCuyo, 5500, Mendoza, Argentina., Romano PS; Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET)-Centro Universitario UNCuyo, 5500, Mendoza, Argentina.; Facultad de Ciencias Médicas, Universidad Nacional de Cuyo-Centro Universitario UNCuyo, 5500, Mendoza, Argentina., Roqué M; Instituto de Histología y Embriología de Mendoza (IHEM, Universidad Nacional de Cuyo, CONICET)-Centro Universitario UNCuyo, 5500, Mendoza, Argentina.; Facultad de Ciencias Exactas y Naturales, Universidad Nacional de Cuyo-Centro Universitario UNCuyo, 5500, Mendoza, Argentina.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2019 Apr; Vol. 76 (7), pp. 1397-1417. Date of Electronic Publication: 2019 Jan 23.
Autor:
Mayorga L; a IHEM CCT-CONICET and National University of Cuyo , Mendoza , Argentina ., Laurito SR; a IHEM CCT-CONICET and National University of Cuyo , Mendoza , Argentina ., Loos MA; b Garrahan Children's Hospital , Buenos Aires , Argentina ., Eiroa HD; b Garrahan Children's Hospital , Buenos Aires , Argentina ., de Pinho S; b Garrahan Children's Hospital , Buenos Aires , Argentina ., Lubieniecki F; b Garrahan Children's Hospital , Buenos Aires , Argentina ., Arroyo HA; b Garrahan Children's Hospital , Buenos Aires , Argentina ., Pereyra MF; c Notti Children's Hospital , Mendoza , Argentina , and., Kauffman MA; d J.M. Ramos Mejía General Hospital , Buenos Aires , Argentina., Roqué M; a IHEM CCT-CONICET and National University of Cuyo , Mendoza , Argentina .
Publikováno v:
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis [Mitochondrial DNA A DNA Mapp Seq Anal] 2016 Jul; Vol. 27 (4), pp. 2864-7. Date of Electronic Publication: 2015 Jun 26.