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1دورية أكاديمية
المؤلفون: Matthias Sauter (11086154), Elena Belousova (116565), Mirjana P. Benedik (7545509), Tom Carter (196826), Vincent Cottin (321742), Paolo Curatolo (298772), Maria Dahlin (3619370), Lisa D’Amato (11086157), Guillaume B. d’Augères (11086160), Petrus J. de Vries (3162558), José C. Ferreira (5328440), Martha Feucht (736217), Carla Fladrowski (3619364), Christoph Hertzberg (3619385), Sergiusz Jozwiak (3444167), John A. Lawson (1921942), Alfons Macaya (313600), Ruben Marques (3619388), Rima Nabbout (374564), Finbar O’Callaghan (3619394), Jiong Qin (541838), Valentin Sander (3619400), Seema Shah (3505391), Yukitoshi Takahashi (2666143), Renaud Touraine (144430), Sotiris Youroukos (3619376), Bernard Zonnenberg (3619391), Anna Jansen (3557087), J. Chris Kingswood (4344526)
مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Pharmacology, Cancer, Mathematical Sciences not elsewhere classified, Rare manifestation, Malignancy, TOSCA, TSC, Tuberous sclerosis complex
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2دورية أكاديمية
المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A
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3دورية أكاديمية
المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A
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4دورية أكاديمية
المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A
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5دورية أكاديمية
المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A
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6دورية أكاديمية
المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A
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7دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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8دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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9دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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10صورة
المؤلفون: Aintzane Urbizu (381010), Melanie E. Garrett (8578323), Karen Soldano (167738), Oliver Drechsel (840861), Dorothy Loth (10783238), Anna Marcé-Grau (840863), Olga Mestres i Soler (10783241), Maria A. Poca (10783244), Stephan Ossowski (209903), Alfons Macaya (313600), Francis Loth (469251), Rick Labuda (10783247), Allison Ashley-Koch (73611)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Neuroscience, Cancer, Mental Health, Plant Biology, gene burden analysis, COL 7A, EDS candidate genes, Chiari Malformation Type 1 Chiari M., collagen genes, COL 6A, CTD, COL 3A, FLT, COL 5A, Spanish family, Ehlers Danlos Syndrome, DST, VEGFB, CM -1. Targeted sequencing, Spanish multiplex family, ADGRB, Cranial bone constriction, COL 6A co-segregated, tissue disorders, COL 6A gene, COL 1A