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1
المؤلفون: Georgia Nikolopoulou, Vassiliki Syriopoulou, George L. Daikos, Emmanouel Kanavakis, Eleni Panagiotakaki, Maria Tzetis, Eleftheria Roma, Nina Manolaki
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 48:72-77
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Biopsy, Urinary system, Physical examination, Asymptomatic, Gastroenterology, Hepatolenticular Degeneration, Liver Function Tests, Internal medicine, medicine, Humans, Child, Cation Transport Proteins, Chelating Agents, Adenosine Triphosphatases, medicine.diagnostic_test, business.industry, Penicillamine, Ceruloplasmin, Infant, Liver, Copper-Transporting ATPases, Child, Preschool, Liver biopsy, Mutation, Pediatrics, Perinatology and Child Health, Abnormal Liver Function Test, Female, medicine.symptom, Liver function tests, business, Copper, Hepatomegaly, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5642054432eff797148774b235c472d1Test
https://doi.org/10.1097/mpg.0b013e31817d80b8Test -
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المؤلفون: Mario Lovicu, Maria Tzetis, Nina Manolaki, Emmanuel Kanavakis, Antonio Cao, Paola Solinas, Themistoklis Karpathios, Georgios Loudianos, Eleni Panagiotakaki
المصدر: Genetic Testing. 4:399-402
مصطلحات موضوعية: media_common.quotation_subject, DNA Mutational Analysis, Nonsense, Population, Biology, medicine.disease_cause, Hepatolenticular Degeneration, Polymorphism (computer science), medicine, Humans, Missense mutation, Genetic Testing, Allele, education, Cation Transport Proteins, Alleles, Genetics (clinical), Genetic testing, media_common, Adenosine Triphosphatases, Genetics, Mutation, education.field_of_study, Polymorphism, Genetic, Greece, medicine.diagnostic_test, Copper-Transporting ATPases, Allelic heterogeneity, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef1f81de3eab9b86464c348365bfb3f3Test
https://doi.org/10.1089/109065700750065162Test -
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المؤلفون: Giorgos Loudianos, Syriopoulou, Maria Tzetis, Sanda Nousia-Arvanitakis, Emmanuel Kanavakis, E.K. Manesis, Eleni Panagiotakaki, Nina Manolaki, Athanasios Papatheodorou
المصدر: American journal of medical genetics. Part A. 131(2)
مصطلحات موضوعية: Adult, Adolescent, Genotype, DNA Mutational Analysis, Mutation, Missense, Disease, Biology, medicine.disease_cause, Frameshift mutation, Hepatolenticular Degeneration, medicine, Missense mutation, Humans, Frameshift Mutation, Gene, Cation Transport Proteins, Genetics (clinical), Genetics, Adenosine Triphosphatases, Mutation, Greece, Phenotype, Copper-Transporting ATPases, Allelic heterogeneity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c78a5e830ec13cfee4d7b30a2e96e53eTest
https://pubmed.ncbi.nlm.nih.gov/15523622Test