Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Gener Querol B"'
Autor:
Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Grondona F; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Swafiri ST; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Lopez-Rodriguez R; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; School of Pharmacy, Universidad San Pablo CEU. CEU Universities, Madrid, Spain., Losada-Del Pozo R; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Mahillo-Fernandez I; Department of Statistics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Moreno B; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Rodrigo-Moreno M; Department of Pediatrics, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain., Casas-Alba D; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lopez-Gonzalez A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., García-Miñaúr S; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Ángeles Mori M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Pacio-Minguez M; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Rikeros-Orozco E; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Santos-Simarro F; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cruz-Rojo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Quesada-Espinosa JF; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Calvin MT; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Sanchez-Del Pozo J; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Endocrinology Unit, Department of Pediatrics, Hospital Universitario 12 de Octubre, Madrid, Spain., Bernado Fonz R; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Isidoro-Garcia M; Department of Biochemistry, Hospital Universitario de Salamanca. IBSAL Universidad de Salamanca, Salamanca, Spain., Ruiz-Ayucar I; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Alvarez-Mora MI; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Blanco-Lago R; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., De Azua B; Department of Pediatrics, Hospital Son Llàtzer, Palma de Mallorca, Spain., Eiris J; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Garcia-Peñas JJ; Pediatric Neurology Unit, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Gil-Fournier B; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Gomez-Lado C; Department of Pediatric Neurology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Irazabal N; Department of Pediatrics, Hospital Can Misses, Eivissa, Spain., Lopez-Gonzalez V; Medical Genetics Unit, Department of Genetics, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Madrigal I; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Department of Biochemistry and Molecular Genetics, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Hospital Clinic de Barcelona, Barcelona, Spain., Malaga I; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain., Martinez-Menendez B; Pediatric Neurology Unit, Department of Neurology, Hospital Universitario de Getafe, Madrid, Spain., Ramiro-Leon S; Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain., Garcia-Hoyos M; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Prieto-Matos P; Department of Pediatrics, Hospital Universitario de Salamanca, Salamanca, Spain., Lopez-Pison J; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarrabiomed Pediatric Neurology Research Group, Hospital Universitario de Navarra, Pamplona, Spain., Alvarez S; Genetic Diagnosis Service, NIMGenetics Genomics and Medicine, Madrid, Spain., Fernández-Jaén A; Department of Pediatric Neurology, Hospital Universitario Quironsalud Madrid, Madrid, Spain., Llano-Rivas I; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Gener-Querol B; Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain., Ayuso C; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Arteche-Lopez A; Dysmorphology and Genetics Unit (UDISGEN), Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Palomares-Bralo M; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Cueto-González A; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron Research Institute, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Martinez-Monseny A; Clinical Genetics and Dysmorphology, Department of Genetic and Molecular Medicine, Pediatric Insitute of Rare Diseases (IPER), Hospital Sant Joan de Deu, Barcelona, Spain., Lorda-Sanchez I; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Almoguera B; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain balmoguera@quironsalud.es.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 644-654. Date of Electronic Publication: 2022 Nov 29.
Autor:
Lopes LR; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK., Garcia-Hernández S; Health in Code S.L., Cardiology and Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Lorenzini M; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK., Futema M; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK., Chumakova O; Federal Scientific Clinical Centre of Federal Medical and Biological Agency, 30, Volokolamskoe Shosse, Moscow, Russia.; Department of Cardiology, City Clinical Hospital, #17, Volynska st., 7, Moscow, Russia., Zateyshchikov D; Federal Scientific Clinical Centre of Federal Medical and Biological Agency, Genetic Laboratory, Moscow, Russia., Isidoro-Garcia M; Inherited Cardiac Disease Unit (CSUR), Biochemistry Department, Instituto de Investigación Biomédica de Salamanca (IBSAL), Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL), Medicine Department, Facultad de Medicina, Universidad de Salamanca, Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Paseo de San Vicente, 58-182, 37007 Salamanca, Madrid, Spain., Villacorta E; Inherited Cardiac Disease Unit (CSUR), Cardiology Department, Instituto de Investigación Biomédica de Salamanca (IBSAL), Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL), Medicine Department, Facultad de Medicina, Universidad de Salamanca, Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Paseo de San Vicente, 58-182, 37007 Salamanca and Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029, Madrid, Spain., Escobar-Lopez L; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 and Calle Joaquín Rodrigo, 1, 28222 Majadahonda, Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)., Garcia-Pavia P; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 and Calle Joaquín Rodrigo, 1, 28222 Majadahonda, Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART).; Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Carretera Pozuelo a Majadahonda, Km 1.800, 28223 Madrid, Spain., Bilbao R; Heart Failure and Pulmonary Hypertension Unit, Hospital Alvaro Cunqueiro, Complexo Hospitalario Universitario de Vigo, Estrada de Clara Campoamor, 341, 36213 Vigo, Pontevedra, Spain., Dobarro D; Heart Failure and Pulmonary Hypertension Unit, Hospital Alvaro Cunqueiro, Complexo Hospitalario Universitario de Vigo, Estrada de Clara Campoamor, 341, 36213 Vigo, Pontevedra, Spain., Sandin-Fuentes M; Hospital Clínico Universitario de Valladolid, Cardiology, Av. Ramón y Cajal, 3, 47003 Valladolid, Spain., Catalli C; Osakidetza Basque Health Service, Cruces University Hospital, Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces Plaza, 48903 Barakaldo, Bizkaia, Spain., Gener Querol B; Osakidetza Basque Health Service, Cruces University Hospital, Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces Plaza, 48903 Barakaldo, Bizkaia, Spain., Mezcua A; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Campus de Teatinos, S/N, 29010 Málaga, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 Madrid, Spain., Garcia Pinilla J; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Campus de Teatinos, S/N, 29010 Málaga, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 Madrid, Spain., Bloch Rasmussen T; Department of Cardiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99 DK-8200 Aarhus, Denmark., Ferreira-Aguar A; Inherited Cardiac Diseases Unit, Cardiology Department, Hospital Clínico Universitario Lozano Blesa, Avda, Calle de San Juan Bosco, 15, 50009 Zaragoza, Spain., Revilla-Martí P; Inherited Cardiac Diseases Unit, Cardiology Department, Hospital Clínico Universitario Lozano Blesa, Avda, Calle de San Juan Bosco, 15, 50009 Zaragoza, Spain., Basurte Elorz MT; Complejo Hospitalario de Navarra, Calle de Irunlarrea, 3, 31008 Pamplona, Navarra, Spain., Bautista Paves A; Hospital Universitario San Cecilio Granada, Av. del Conocimiento, s/n, 18016 Granada, Cardiology., Ramon Gimeno J; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART).; Hospital Clínico Universitario Virgen de la Arrixaca, Inherited Cardiac Diseases Unit, Department of Cardiology, Ctra. Madrid-Cartagena, s/n, 30120 El Palmar, Murcia, Spain., Figueroa AV; Hospital Privado Universitario de Córdoba, Naciones Unidas 346, Córdoba, Argentina., Franco-Gutierrez R; Cardiology Department, Hospital Universitario Lucus Augusti, Lugo Biodiscovery HULA-USC Research Group, Institute for Health Research of Santiago de Compostela IDIS, s/n A, Travesía da Choupana, 15706 Santiago de Compostela, A Coruña., Fuentes-Cañamero ME; Hospital Universitario Infanta Cristina, Cardiology, Av. de Elvas, s/n, 06080 Badajoz, Spain., Martinez Moreno M; Hospital General Elche, Carrer Almazara, 11, 03203 Elche, Alicante., Ortiz-Genga M; Health in Code S.L., Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Piqueras-Flores J; Cardiology Department, Inherited Cardiovascular Diseases Unit, Hospital General Universitario de Ciudad Real, Calle Obispo Rafael Torija, s/n, 13005 Ciudad Real, Spain., Analia Ramos K; Hospital Centenario, Urquiza 3101, S2002 KDT, Santa Fe, Rosario, Argentina., Rudzitis A; Pauls Stradins Clinical University Hospital, Pilsoņu iela 13, Zemgales priekšpilsēta, Rīga, LV-1002, Latvia., Ruiz-Guerrero L; Hospital Universitario Marqués de Valdecilla (IDIVAL), Av. de Valdecilla, 25, 39008 Santander, Spain., Stein R; School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Av. Paulo Gama, 110 Secretaria de Comunicação Social - 8º andar - Reitoria - Farroupilha, Porto Alegre - RS 90040-060, Brazil., Triguero-Bocharán M; Cardiology Department, Inherited Cardiovascular Diseases Unit, Hospital General Universitario de Ciudad Real, Calle Obispo Rafael Torija, s/n, 13005 Ciudad Real, Spain., de la Higuera L; Health in Code S.L., Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Ochoa JP; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Av. Monforte de Lemos, 3-5. Pabellón 11. Planta 0 28029 and Calle Joaquín Rodrigo, 1, 28222 Majadahonda, Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)., Abu-Bonsrah D; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia., Kwok CYT; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia., Smith JB; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia., Porrello ER; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia.; Dept. of Physiology, University of Melbourne, Parkville, VIC 3052, Australia., Akhtar MM; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK., Jager J; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK., Ashworth M; Department of Histopathology, Great Ormond St Hospital for Children, London WC1N 3NN, UK., Syrris P; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK., Elliott DA; Murdoch Research Childrens Research Institute, Royal Melbourne Hospital, Parkville, VIC 3052, Australia.; Dept. of Physiology, University of Melbourne, Parkville, VIC 3052, Australia., Monserrat L; Health in Code S.L., Scientific Department, As Xubias, s/n Edificio O Fortín, 15006 A Coruña, Spain., Elliott PM; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, 62 Huntley St, London WC1E 6DD, UK.; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK.
Publikováno v:
European heart journal [Eur Heart J] 2021 Aug 21; Vol. 42 (32), pp. 3063-3073.
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Autor:
Fergelot P; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France., Van Belzen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Van Gils J; Department of Genetics, University Hospital Center, Bordeaux, France., Afenjar A; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France., Armour CM; Regional Genetics Unit, Children's Hospital of Eastern Ontario, Ottawa, Canada., Arveiler B; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France., Beets L; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands., Burglen L; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France., Busa T; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France., Collet M; Département de Génétique, Hospital Necker-Enfants Malades, AP-HP, Paris, France., Deforges J; Department of Genetics, University Hospital Center, Bordeaux, France., de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Dominguez Garrido E; Center for Biomedical Research, Logrono-La Rioja, Spain., Dorison N; Departement de Neuropédiatrie, Institut Jérôme Lejeune, Paris, France., Dupont J; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, CHLN, Lisboa, Portugal., Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France., Garciá-Minaúr S; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain., Gabau Vila E; Genetics Clinic, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Sabadell, Spain., Gebre-Medhin S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden., Gener Querol B; Hospital de Cruces, Baracaldo, Spain., Geneviève D; Service de Génétique Médicale, Hospital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Gérard M; Service de Génétique, Hospital Clémenceau, CHU de Caen, Caen, France., Gervasini CG; Department of Medical Genetics, University of Milan, Milan, Italy., Goldenberg A; Unité de Génétique Clinique, Hospital Charles Nicolle, CHU Rouen, Rouen, France., Josifova D; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom., Lachlan K; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Maas S; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands., Maranda B; Laboratoire de Médecine Génétique, CHUQ Pavillon CHUL, Saint Foy, Canada., Moilanen JS; PEDEGO Research Unit, and Medical Research Center Oulu, Department of Clinical Genetics, University of Oulu, Oulu University Hospital, Oulu, Finland., Nordgren A; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Parent P; Département de Pédiatrie et Génétique Médicale, Hospital Augustin Morvan, CHU Brest, Brest, France., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Reardon W; Our Lady's Hospital for Sick Children, Crumlin, Ireland., Rio M; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France., Roume J; Unité de Génétique Médicale, CHI Poissy, Saint Germain en Laye, France., Shaw A; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom., Smigiel R; Department of Paediatrics, Wroclaw Medical University, Wroclaw, Poland., Sojo A; Hospital de Cruces, Baracaldo, Spain., Solomon B; Division of Medical Genomics, Inova Translational Medical Institute, Falls Church., Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Suarez F; Service de Génétique, Hospital Virgen de la Salud, Toledo, Spain., Terhal P; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Thomas S; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Touraine R; Service de Génétique Clinique et Moléculaire, CHU Hôpital-Nord, Saint-Etienne, France., Verloes A; Département de Génétique, CHU Robert Debré, AP-HP, Paris, France., Vincent-Delorme C; Service de Génétique Médicale, Hospital d'Arras, CHU de Lille, Arras, France., Wincent J; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Peters DJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bartsch O; Institute of Human Genetics, University Medical Centre, Mainz, Germany., Larizza L; Department of Health Sciences, University of Milan, Milan, Italy., Lacombe D; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France., Hennekam RC; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3069-3082. Date of Electronic Publication: 2016 Sep 20.
Autor:
Yang, Kai1 (AUTHOR), Fu, Li‐Man2 (AUTHOR), Chu, Xiao‐Yang3 (AUTHOR), Zhang, Jing4 (AUTHOR), Chen, Wen‐Qi4 (AUTHOR), Yan, You‐Sheng1 (AUTHOR), Wang, Yi‐Peng1 (AUTHOR), Zhang, Dong‐Liang5 (AUTHOR) zhangdongliang@mail.ccmu.edu.cn, Yin, Cheng‐Hong1 (AUTHOR) yinchh@ccmu.edu.cn, Guo, Qing4 (AUTHOR) yfguoqing@163.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Jul2023, Vol. 11 Issue 7, p1-9. 9p.
Autor:
Lenarduzzi, Stefania1 (AUTHOR), Spedicati, Beatrice2 (AUTHOR), Alessandrini, Beatrice2 (AUTHOR), Tesolin, Paola2 (AUTHOR) paola.tesolin@burlo.trieste.it, Paldino, Alessia3 (AUTHOR), Gigli, Marta3 (AUTHOR), Sinagra, Gianfranco2,3 (AUTHOR), Gasparini, Paolo1,2 (AUTHOR), Ferro, Matteo Dal3 (AUTHOR), Girotto, Giorgia1,2 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. May2023, Vol. 11 Issue 5, p1-15. 15p.
Autor:
Rainger J; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2012 Sep 15; Vol. 21 (18), pp. 3969-83. Date of Electronic Publication: 2012 Jun 12.
Akademický článek
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Publikováno v:
Journal of Neurodevelopmental Disorders; 5/27/2023, Vol. 15 Issue 1, p1-11, 11p