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المؤلفون: Baris Akinci, Fernando Corvillo
المصدر: Molecular Immunology. 112:223-232
مصطلحات موضوعية: 0301 basic medicine, Lipodystrophy, Immunology, Inflammation, Antigen-Antibody Complex, Acquired Partial Lipodystrophy, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine, Animals, Humans, Molecular Biology, Innate immune system, business.industry, Complement C3, medicine.disease, Immunity, Innate, Complement (complexity), Complement system, 030104 developmental biology, Adipose Tissue, Alternative complement pathway, medicine.symptom, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61e493ac78a8ff8f1dae2512baff4b0Test
https://doi.org/10.1016/j.molimm.2019.05.011Test -
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المؤلفون: Alexander Tanner, Hwei Wuen Chan, Mariya Moosajee, Anna Stears
المصدر: BMJ Case Rep
مصطلحات موضوعية: Adult, medicine.medical_specialty, Visual acuity, genetic structures, Lipodystrophy, Glomerulonephritis, Membranoproliferative, 030209 endocrinology & metabolism, Case Report, Retinal Drusen, Retinal Pigment Epithelium, Drusen, Acquired Partial Lipodystrophy, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, Membranoproliferative glomerulonephritis, medicine, Humans, Anisometropia, Retina, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, eye diseases, medicine.anatomical_structure, 030221 ophthalmology & optometry, Female, sense organs, Bruch Membrane, medicine.symptom, business, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ec4810d037a1b7f2f76f648a57025fTest
https://europepmc.org/articles/PMC8217924Test/ -
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المؤلفون: James E. Balow, Ho Lim Lee, Meryl Waldman, Elaine Cochran, Sungyoung Auh, Phillip Gorden, Rebecca J. Brown
المصدر: The Journal of Clinical Endocrinology & Metabolism. 104:4169-4177
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Urology, Renal function, 030209 endocrinology & metabolism, Context (language use), urologic and male genital diseases, Biochemistry, 03 medical and health sciences, Metreleptin, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Clinical Research Articles, Proteinuria, urogenital system, business.industry, Biochemistry (medical), Partial Lipodystrophy, medicine.disease, female genital diseases and pregnancy complications, enzymes and coenzymes (carbohydrates), 030104 developmental biology, chemistry, Albuminuria, lipids (amino acids, peptides, and proteins), medicine.symptom, Lipodystrophy, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ee727174f116bdd090daf6b999c07cTest
https://doi.org/10.1210/jc.2019-00200Test -
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المؤلفون: Daniel Tews, Giovanni Ceccarini, Ansgar Schulz, Klaus-Michael Debatin, Julia von Schnurbein, Christian Denzer, Martin Wabitsch
المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 1559, p 1559 (2021)مصطلحات موضوعية: Oncology, medicine.medical_specialty, lipodystrophy, Lipodystrophy, medicine.medical_treatment, Adipose tissue, lcsh:Medicine, Disease, Hematopoietic stem cell transplantation, Review, Stem cells, Lipodystrophia, Stammzelle, 03 medical and health sciences, 0302 clinical medicine, DDC 570 / Life sciences, Internal medicine, ddc:570, medicine, ddc:610, 030304 developmental biology, 0303 health sciences, Fettgewebe, business.industry, Stem Cells, Partial Lipodystrophy, lcsh:R, Late effect, General Medicine, medicine.disease, Transplantation, surgical procedures, operative, Adipose Tissue, 030220 oncology & carcinogenesis, medicine.symptom, Stem cell, business, DDC 610 / Medicine & health
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deaf5cc4096b1aeadd90f5364aadfee9Test
https://hdl.handle.net/11568/1113326Test -
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المؤلفون: Giovanni Ceccarini, Annamaria Ciccarone, Andrea Barison, Maria Rita Sessa, Margherita Maffei, Ferruccio Santini, Gianluca Aimaretti, Silvia Magno, Caterina Pelosini, Federica Ferrari, Michele Emdin, Donatella Gilio, Flavia Prodam
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, lipodystrophy, Heart disease, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, Case Report, 030209 endocrinology & metabolism, Short stature, Nephropathy, LMNA, 03 medical and health sciences, 0302 clinical medicine, Medicine, Missense mutation, LMNA mutation, business.industry, Partial Lipodystrophy, atypical progeroid syndrome, medicine.disease, 030104 developmental biology, Atypical progeroid syndrome, Lipodystrophy, medicine.symptom, business, AcademicSubjects/MED00250
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11258f7e1c46efe2954ed906fdda4d1dTest
https://doi.org/10.1210/jendso/bvaa108Test -
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المؤلفون: Meet Shah, Banshi Saboo
المصدر: Journal of Diabetology, Vol 12, Iss 3, Pp 371-375 (2021)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lipodystrophy, business.industry, Partial Lipodystrophy, Type 2 diabetes, RC648-665, medicine.disease, Diseases of the endocrine glands. Clinical endocrinology, chemistry.chemical_compound, medicine.anatomical_structure, Insulin resistance, chemistry, Weight loss, insulin resistance, medicine, General Earth and Planetary Sciences, Dapagliflozin, Buttocks, Lipodystrophy, medicine.symptom, business, partial lipodystrophy of limbs, General Environmental Science, Glycemic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e19d7122e980d7571b63b8e93c33711Test
https://doi.org/10.4103/jod.jod_15_21Test -
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المؤلفون: Hang Li, Nuo Si, Wei Ye, Lei Zhang, Yubing Wen, Ru-Xuan Chen, Ke Zheng, Mingxi Li, Xuemei Li
المصدر: BMC Nephrology, Vol 19, Iss 1, Pp 1-7 (2018)
BMC Nephrologyمصطلحات موضوعية: 0301 basic medicine, Nephrology, medicine.medical_specialty, Adolescent, Familial partial lipodystrophy, Case Report, Focal segmental glomerulosclerosis, lcsh:RC870-923, Gastroenterology, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Frameshift Mutation, Kidney, Proteinuria, medicine.diagnostic_test, business.industry, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Lipodystrophy, Familial Partial, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, Renal biopsy, Insulin Resistance, medicine.symptom, Lipodystrophy, business, PLIN1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e3112dd14a87fa21b780692fb9a1a7Test
http://link.springer.com/article/10.1186/s12882-018-0913-6Test -
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المؤلفون: Antonio Mera, Elena Pintos, Ana Castro-Pais, David Araújo-Vilar, Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Leticia Rodriguez-Cañete, Julio Pardo, Felipe F. Casanueva
المساهمون: Universidade de Santiago de Compostela. Centro de Investigación en Medicina Molecular e Enfermidades Crónicas, Universidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicina
المصدر: Archives of Endocrinology and Metabolism, Vol 62, Iss 3, Pp 376-382 (2018)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instnameمصطلحات موضوعية: Premature aging, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:RC648-665, business.industry, Endocrinology, Diabetes and Metabolism, Partial Lipodystrophy, lcsh:R, lcsh:Medicine, 030209 endocrinology & metabolism, Laminopathy, medicine.disease, Familial partial lipodystrophy, lcsh:Diseases of the endocrine glands. Clinical endocrinology, LMNA, Inflammatory myopathy, 03 medical and health sciences, 0302 clinical medicine, Medicine, Muscular dystrophy, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dec94176e15b1d1f8230f3ff820cd068Test
https://hdl.handle.net/10347/22916Test -
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المؤلفون: Adel Shalata, Riad Mahamid, Chao Xing, Sagit Zolotov, Mohammed Sheikh-Ahmad, Abhimanyu Garg
المصدر: American Journal of Medical Genetics Part A. 173:190-194
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genotype, Lipodystrophy, Lipomatosis, DNA Mutational Analysis, Adipose tissue, Hormone-sensitive lipase, Biology, Article, Young Adult, 03 medical and health sciences, Muscular Diseases, Internal medicine, Genetics, medicine, Humans, Exome, Myopathy, Genetic Association Studies, Genetics (clinical), Exome sequencing, Aged, Siblings, Homozygote, Hypertriglyceridemia, Partial Lipodystrophy, Middle Aged, Sterol Esterase, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Endocrinology, Mutation, Lipomatosis, Multiple Symmetrical, Female, medicine.symptom, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3c30441262515353427cb8372e80034Test
https://doi.org/10.1002/ajmg.a.37880Test -
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المؤلفون: Agnieszka Madej-Pilarczyk, Magdalena Janus, Stefan Grajek, Adam Niezgoda, Michał Marchel, Anna Fidziańska, Romuald Wojnicz, Irena Hausmanowa-Petrusewicz
المصدر: Journal of Applied Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Cardiomyopathy, Dilated, medicine.medical_specialty, Pathology, Lipodystrophy, Laminopathy, Cardiomyopathy, 030204 cardiovascular system & hematology, Biology, LMNA, 03 medical and health sciences, 0302 clinical medicine, Human Genetics • Original Paper, Internal medicine, medicine, Genetics, Humans, LMNA gene, Heart Failure, Lamin A/C, Muscle biopsy, medicine.diagnostic_test, Partial Lipodystrophy, General Medicine, medicine.disease, Lamin Type A, Muscle atrophy, 030104 developmental biology, Endocrinology, Muscular Dystrophies, Limb-Girdle, Mutation, Limb-girdle muscular dystrophy, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f00831c3be749458eeb2c1a48a31e4Test
http://europepmc.org/articles/PMC5243892Test
