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المؤلفون: Elizabeth A. Thiele, Elizabeth P. Henske, Benjamin Stump, Shefali Bagwe, Hilary J. Goldberg, Anthony M. Lamattina, Sergio Poli, Pierce H. Louis, Ivan O. Rosas, Souheil El-Chemaly, Andrew M. Courtwright, Pranav Kidambi, Shikshya Shrestha
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Oncology, lcsh:Medicine, 030105 genetics & heredity, Tuberous Sclerosis Complex 1 Protein, Cohort Studies, Pathogenesis, Tuberous sclerosis, 0302 clinical medicine, Tuberous Sclerosis, DLCO, hemic and lymphatic diseases, Pharmacology (medical), Lymphangioleiomyomatosis, Letter to the Editor, Genetics (clinical), TSC, General Medicine, Middle Aged, Endostatins, medicine.anatomical_structure, Cohort, cardiovascular system, Female, lipids (amino acids, peptides, and proteins), Endostatin, Adult, medicine.medical_specialty, macromolecular substances, 03 medical and health sciences, Internal medicine, Tuberous Sclerosis Complex 2 Protein, medicine, Humans, Gene Silencing, Isolated decrease, Germ-Line Mutation, business.industry, lcsh:R, LAM, bacterial infections and mycoses, medicine.disease, TSC1, TSC2, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb5a6c71bc5f505a8b998cf82b4758dTest
https://doi.org/10.1186/s13023-019-1050-4Test -
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المؤلفون: Elizabeth P. Henske
المصدر: Genes, Chromosomes and Cancer. 38:376-381
مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Lung Neoplasms, Disease, Biology, Tuberous Sclerosis Complex 1 Protein, Metastasis, Tuberous sclerosis, Tuberous Sclerosis, immune system diseases, hemic and lymphatic diseases, Tuberous Sclerosis Complex 2 Protein, Parenchyma, Genetics, medicine, Animals, Humans, Small GTPase, Lymphangioleiomyomatosis, Tumor Suppressor Proteins, Proteins, Cell migration, bacterial infections and mycoses, medicine.disease, Repressor Proteins, medicine.anatomical_structure, Immunology, lipids (amino acids, peptides, and proteins), TSC1, TSC2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4f943ced228fe2918585d81a61d4ceTest
https://doi.org/10.1002/gcc.10252Test -
3The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis
المؤلفون: Warren D. Kruger, Jay H. Ryu, Eugene J. Sullivan, Elizabeth P. Henske, Galina D. Strizheva, Thomas Carsillo
المصدر: American journal of respiratory and critical care medicine. 163(1)
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Gene mutation, Biology, Critical Care and Intensive Care Medicine, medicine.disease_cause, Tuberous Sclerosis Complex 1 Protein, Tuberous sclerosis, Exon, Germline mutation, immune system diseases, Tuberous Sclerosis, hemic and lymphatic diseases, Tuberous Sclerosis Complex 2 Protein, medicine, Missense mutation, Humans, Genes, Tumor Suppressor, Lymphangioleiomyomatosis, Mutation, Tumor Suppressor Proteins, Proteins, Exons, Sequence Analysis, DNA, bacterial infections and mycoses, medicine.disease, Repressor Proteins, medicine.anatomical_structure, Cancer research, lipids (amino acids, peptides, and proteins), Female, TSC1, TSC2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1d2c319599be5ea43207f69fa368e4Test
https://pubmed.ncbi.nlm.nih.gov/11208653Test