المؤلفون: Penelope S. Roberts, David Neal Franz, David J. Kwiatkowski, Sergiusz Jozwiak, Ronald Perez, Andres Nieto, Katherine B. Sims, Sandra L. Dabora, John J. Bissler, Elizabeth A. Thiele

المصدر: The American Journal of Human Genetics. (4):750-758

مصطلحات موضوعية: Proband, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Angiomyolipoma, Adolescent, Genotype, Gene Expression, Biology, Gastroenterology, Tuberous sclerosis, Interferon-gamma, Gene Frequency, Tuberous Sclerosis, Internal medicine, medicine, Genetics, Humans, Genetics(clinical), Allele, Child, Allele frequency, Genetics (clinical), Alleles, Age Factors, Articles, Middle Aged, medicine.disease, Cohort, Immunology, Female, Kidney Diseases, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b9e13a6c185f1ea7e620ed35fb78d44Test

المؤلفون: Mary Pat Reeve, Joon Chung, Dorota Domańska-Pakieła, Penelope S. Roberts, Jolanta Kasprzyk-Obara, Elizabeth A. Thiele, Sandra L. Dabora, Andres Nieto, John C. Egelhoff, David J. Kwiatkowski, Sergiusz Jozwiak, Yew-Sing Choy, David Neal Franz

المصدر: The American Journal of Human Genetics. (1):64-80

مصطلحات موضوعية: Pathology, DNA Mutational Analysis, Nucleic Acid Denaturation, Tuberous Sclerosis Complex 1 Protein, Germline, Cohort Studies, Tuberous sclerosis, 0302 clinical medicine, Tuberous Sclerosis, Gene Duplication, Gene duplication, Genotype, Genetics(clinical), Child, Chromatography, High Pressure Liquid, Genetics (clinical), Sequence Deletion, 0303 health sciences, Exons, Articles, Middle Aged, 3. Good health, Tuberous sclerosis protein, Phenotype, medicine.anatomical_structure, Child, Preschool, medicine.symptom, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Kidney cysts, 03 medical and health sciences, Tuberous Sclerosis Complex 2 Protein, Genetics, medicine, Humans, Hamartoma, 030304 developmental biology, Tumor Suppressor Proteins, Infant, Proteins, medicine.disease, nervous system diseases, Repressor Proteins, Mutagenesis, Insertional, Mutation, Cancer research, TSC1, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9facf02507ba97dd97c3ec08d0bfceTest