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المؤلفون: Fabienne Giuliano, Olivier Pichon, Lucile Pinson, Bénédicte Duban-Bedu, Valérie Malan, Emilie Bourel-Ponchel, Rima Nabbout, Mathilde Nizon, Delphine Héron, Marlène Rio, Béatrice Bourgois, Odile Boute, Alice Goldenberg, Sarah Grotto, Sylvie Nusbaum, Odile Raoul, Catherine Turleau, Eric Le Galloudec, Joris Andrieux, Houda Karmous-Benailly, Bruno Delobel, Marie-Christine de Blois, Boris Keren, Martine Le Merrer, Laurence Colleaux, Cédric Le Caignec, Albert David, Serge Romana, Jean-Michel Lapierre, Agnès Roubertie, Didier Lacombe, Caroline Rooryck, Michel Vekemans, Michèle Mathieu-Dramard, Anne-Gaëlle Le Moing
المصدر: American Journal of Medical Genetics Part A. 167:111-122
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Candidate gene, Adolescent, Chromosomal rearrangement, Epilepsy, Segmental Duplications, Genomic, Intellectual disability, Genetics, medicine, Humans, Child, Genetic Association Studies, Genetics (clinical), Segmental duplication, Chromosomes, Human, X, Comparative Genomic Hybridization, business.industry, Chromosome Mapping, Electroencephalography, West Syndrome, medicine.disease, Phenotype, Child, Preschool, Cohort, Female, business, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f978123b2d200bc2c3ec23780350be27Test
https://doi.org/10.1002/ajmg.a.36807Test -
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المؤلفون: Novara, Francesca, Stanzial, Franco, Rossi, Elena, Benedicenti, Francesco, Inzana, Francesca, Di Gregorio, Eleonora, Brusco, Alfredo, Graakjaer, Jesper, Fagerberg, Christina, Belligni, ELGA FABIA, Elga Fabia, Cirillo, Margherita, Zuffardi, Orsetta, Ciccone, Roberto
المصدر: Novara, F, Stanzial, F, Rossi, E, Benedicenti, F, Inzana, F, Di Gregorio, E, Brusco, A, Graakjaer, J, Fagerberg, C R, Belligni, E, Silengo, M, Zuffardi, O & Ciccone, R 2014, ' Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion ', American Journal of Medical Genetics. Part A, vol. 164, no. 8, pp. 2084-2090 . https://doi.org/10.1002/ajmg.a.36591Test
مصطلحات موضوعية: Male, Microcephaly, Array-CGH, Adolescent, NSD1, Sotos syndrome, array-CGH, Biology, Bioinformatics, NSD1, Short stature, Segmental Duplications, Genomic, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Sotos syndrome, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Comparative Genomic Hybridization, Sotos Syndrome, Facies, Bone age, Middle Aged, medicine.disease, Phenotype, array-CGH, Child, Preschool, Failure to thrive, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, medicine.symptom, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c95216b0bfd1454261879332f22ef21Test
https://doi.org/10.1002/ajmg.a.36591Test -
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المصدر: American Journal of Medical Genetics Part A. :1071-1076
مصطلحات موضوعية: Gene Rearrangement, Genetics, education.field_of_study, Chromosomes, Human, Pair 12, Offspring, Genetic counseling, Population, Chromosomal translocation, Biology, Bioinformatics, Translocation, Genetic, Segmental Duplications, Genomic, Intellectual Disability, Gene duplication, Humans, Family, Chromatid, education, Genetics (clinical), Reciprocal, Sequence Deletion, Segmental duplication
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cbf976545f6c19ff71fd76ca9d24270Test
https://doi.org/10.1002/ajmg.a.35287Test -
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المؤلفون: Hiroshi Doi, Hitoshi Osaka, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Kenji Kurosawa, Shirou Sugiyama, Hirotomo Saitsu, Akira Nishimura
المصدر: American Journal of Medical Genetics Part A. :199-205
مصطلحات موضوعية: medicine.medical_specialty, Neurite, Chromosomal translocation, In situ hybridization, Biology, Segmental Duplications, Genomic, Seizures, Internal medicine, Genetics, medicine, Humans, Cloning, Molecular, In Situ Hybridization, Fluorescence, Genetics (clinical), SLIT-ROBO Rho GTPase-Activating Protein 2, Base Sequence, GTPase-Activating Proteins, Breakpoint, Infant, Newborn, Brain, Chromosome Mapping, Infant, Electroencephalography, Human brain, Magnetic Resonance Imaging, SRGAP2, Hypsarrhythmia, Endocrinology, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d671ed9aea86acf85560d37ea723d1dTest
https://doi.org/10.1002/ajmg.a.34363Test
