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1دورية أكاديمية
المؤلفون: Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
المصدر: Genes, Vol 14, Iss 6, p 1179 (2023)
مصطلحات موضوعية: SETD2, Luscan–Lumish syndrome, Rabin–Pappas syndrome, intellectual developmental disorder, autosomal dominant 70, overgrowth, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Yeray Nóvoa Medina, Ángela Domínguez García, Sofía Quinteiro González, Loida María García Cruz, Alfredo Santana Rodríguez
المصدر: Anales de Pediatría, Vol 95, Iss 2, Pp 93-100 (2021)
مصطلحات موضوعية: Congenital hyperinsulinism, Incidence, Gran Canaria, Genetics, Hypoglycaemia, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1695403320303817Test; https://doaj.org/toc/1695-4033Test
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3دورية أكاديمية
المؤلفون: Elena Kypri, Marios Ioannides, Evi Touvana, Ioanna Neophytou, Petros Mina, Voula Velissariou, Spiros Vittas, Alfredo Santana, Filippos Alexidis, Kyriakos Tsangaras, Achilleas Achilleos, Philippos Patsalis, George Koumbaris
المصدر: Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-7 (2019)
مصطلحات موضوعية: Cell-free DNA, Non-invasive prenatal testing, Aneuploidy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13039-019-0446-0Test; https://doaj.org/toc/1755-8166Test
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المؤلفون: Voula Velissariou, George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Alfredo Santana, Petros Mina, Spiros Vittas, Marios Ioannides, Evi Touvana, Achilleas Achilleos, Philippos C. Patsalis, Filippos Alexidis, Ioanna Neophytou
المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-7 (2019)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Aneuploidy, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Cell-free DNA, Genetics, medicine, Prospective cohort study, Molecular Biology, Genetics (clinical), Obstetrics, Singleton, business.industry, Research, Biochemistry (medical), Gestational age, Retrospective cohort study, medicine.disease, lcsh:Genetics, 030104 developmental biology, Cell-free fetal DNA, Non-invasive prenatal testing, Cohort, Molecular Medicine, Trisomy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa2a38ba0644af98160db1d0e211453Test
http://europepmc.org/articles/PMC6628499Test -
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المصدر: Medicina Clínica (English Edition). 152:242-243
مصطلحات موضوعية: Genetics, business.industry, X-linked adrenal hypoplasia congenita, Medicine, Missense mutation, business, medicine.disease, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ffeca9c8d70fd71e405f958bcaa99543Test
https://doi.org/10.1016/j.medcle.2018.04.013Test -
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المصدر: CYTOLOGIA. 78:195-202
مصطلحات موضوعية: Cyclin E, DNA damage, Cell Biology, Plant Science, Biology, medicine.disease, Embryonic stem cell, Molecular biology, Dna instability, Genetics, biology.protein, medicine, Animal Science and Zoology, Teratoma, STAT3
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aa7b3a9e8c3c914861a16e87b0f3bca6Test
https://doi.org/10.1508/cytologia.78.195Test -
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المؤلفون: Carlos Vázquez Huarte-Mendicoa, Mercedes Robledo, Juan C. Cigudosa, Rocío Letón, Mauro Boronat Costa, Cristina Rodríguez-Antona, Iñaki Comino-Méndez, L Javier Leandro-García, Alfredo Santana, Alberto Cascón, Iñigo Landa, Javier Suela, Lydia Sánchez
المصدر: Genes, Chromosomes and Cancer. 50:922-929
مصطلحات موضوعية: Adenoma, Adult, Male, Cancer Research, Adolescent, Tumor suppressor gene, Locus (genetics), Biology, Polymerase Chain Reaction, Germline, Germline mutation, Genetics, medicine, Humans, Multiple endocrine neoplasia, Gene, Germ-Line Mutation, Tumor Suppressor Proteins, Syndrome, Hyperparathyroidism, Primary, medicine.disease, Immunohistochemistry, Jaw Neoplasms, Parathyroid Neoplasms, Parathyroid carcinoma, Female, Gene Deletion, Primary hyperparathyroidism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3b64b4ac1596a70d65ba5d2a056baaTest
https://doi.org/10.1002/gcc.20911Test -
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المؤلفون: Alfredo Santana, Marisol Rodriguez-Pena, Eduardo Salido, Harald Petry, Stuart G. Beattie, Armando Torres
مصطلحات موضوعية: Ethylene Glycol, medicine.medical_treatment, Blotting, Western, Biology, Liver transplantation, medicine.disease_cause, Virus, Primary hyperoxaluria, Mice, Urolithiasis, Genetic model, Drug Discovery, medicine, Primary Hyperoxaluria Type I, Genetics, Animals, Humans, Adeno-associated virus, Molecular Biology, Transaminases, Pharmacology, Mice, Knockout, Oxalates, Gene Transfer Techniques, Genetic Therapy, Dependovirus, medicine.disease, Molecular biology, Disease Models, Animal, Nephrocalcinosis, Phenotype, Liver, Inborn error of metabolism, Hyperoxaluria, Primary, Molecular Medicine, Original Article, Capsid Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd5d4fe62c5a4f6da3961adde9adb86Test
https://europepmc.org/articles/PMC3098628Test/ -
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المؤلفون: Teresa Fuentes, Jose A. L. Calbet, Safira Delgado-Guerra, Cecilia Dorado, Amelia Guadalupe-Grau, Borja Guerra, Hugo Olmedillas, Alfredo Santana
المصدر: ResearcherID
مصطلحات موضوعية: medicine.medical_specialty, Leptin receptor, Endocrinology, Internal medicine, Genetics, medicine, Biology, Molecular Biology, Biochemistry, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85db383ef9ed54ef8b11f9a476432557Test
https://doi.org/10.1096/fasebj.22.1_supplement.962.3Test -
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المؤلفون: Teresa Fuentes, Borja Guerra, Cecilia Dorado, Alfredo Cabrera-Socorro, Alfredo Santana, Safira Delgado-Guerra, Jose A. L. Calbet
المصدر: ResearcherID
مصطلحات موضوعية: Adult, Leptin, Male, medicine.medical_specialty, Perilipin-1, Physiology, Central nervous system, Blotting, Western, Hypothalamus, Subcutaneous Fat, Adipose tissue, Receptors, Cell Surface, Biology, Biochemistry, Antibodies, Antibody Specificity, Physiology (medical), Internal medicine, medicine, Genetics, Humans, Protein Isoforms, Muscle, Skeletal, Molecular Biology, Messenger RNA, Leptin receptor, Skeletal muscle, Phosphoproteins, Molecular Weight, Endocrinology, medicine.anatomical_structure, Perilipin, Receptors, Leptin, Carrier Proteins, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580cabd3d903f627f76c4408cdd2cb5aTest
https://pubmed.ncbi.nlm.nih.gov/17234799Test