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Human genomics, ISSN 1479-7364, 2015, Volume 9, Issue 1, p. 6
Journal Article
Revista Colombiana de Cardiología, ISSN 0120-5633, 2018, Volume 25, Issue 4, pp. 264 - 276
Resumen Las cardiopatías familiares son un grupo de enfermedades con alta heterogeneidad clínica y genética. Debido a que pueden heredarse y a su asociación... 
Cardiovascular | Muerte súbita cardiaca | Asociación genotipo-fenotipo | Secuenciación masiva | Miocardiopatías | Cardiomyopathies | Massive sequencing | Genotype-phenotype association | Sudden cardiac death
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2015, Volume 232, Issue 3, pp. 266 - 274
Journal Article
Revista Española de Patología, ISSN 1699-8855, 2016, Volume 50, Issue 1, pp. 64 - 67
Resumen El síndrome de Von Hippel-Lindau (VHL) es una enfermedad hereditaria autosómica dominante asociada a mutaciones en el gen supresor de tumores VHL... 
Pathology | Genotype-phenotype relationship | Síndrome de Von Hippel-Lindau | Análisis genético | Von Hippel-Lindau syndrome | Genetic analysis | Relación genotipo-fenotipo
Journal Article
Der Onkologe, ISSN 0947-8965, 6/2016, Volume 22, Issue 6, pp. 400 - 405
Neben der klassischen Diagnosestellung ist der Pathologe zunehmend mit der Tumorsubtypisierung und Ermittlung therapierelevanter Biomarker beim Magenkarzinom... 
Subtypisierung | Biomarker | Genotype phenotype correlation | Medicine & Public Health | Magenkarzinom | Tumorheterogenität | Genotyp-Phänotyp-Korrelation | Tumor heterogeneity | Oncology | Subtyping | Gastric cancer
Journal Article
medizinische genetik, ISSN 0936-5931, 12/2014, Volume 26, Issue 4, pp. 427 - 442
Ichthyosen gehören zu einer klinisch und genetisch heterogenen Gruppe von Erkrankungen, die durch generalisierte Schuppung und/oder Hyperkeratosen der Haut... 
Human Genetics | Pediatrics | Cornification disorder | Genotyp-Phänotyp-Korrelation | Hyperkeratosis | Ichthyose | Ichthyosis | Genotype phenotype correlation | Medicine & Public Health | Obstetrics/Perinatology | Hyperkeratose | Mutation | Reproductive Medicine | Verhornungsstörung
Journal Article
Pathologe, ISSN 0172-8113, 09/2009, Volume 30, Issue 5, pp. 357 - 364
Journal Article
Neurología, ISSN 0213-4853, 2010, Volume 27, Issue 4, pp. 225 - 233
Resumen Introducción El análisis genético de los trastornos específicos del lenguaje resulta del máximo interés, tanto para la práctica clínica como para la... 
Neurology | Language disorders | Genes | Correlaciones genotipo-fenotipo | Ontogenia | Ontogeny | Etiología | Genotype-phenotype relationships | FOXP2 | Aetiology | Trastornos del lenguaje
Journal Article
Animal Biodiversity and Conservation, ISSN 1578-665X, 2011, Volume 34, Issue 2, pp. 309 - 317
Journal Article
Arbor, ISSN 0210-1963, 2010, Volume 186, Issue 746, pp. 1051 - 1064
Journal Article
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