Keywords: پوست شل; Glycosylation; Mitochondrial disease; Lactic acid; Transferrin isoelectric focusing (TIEF); Stroke-like episodes; Hypoglycemia; Cutis laxa; Cholestasis;
مقالات ISI پوست شل (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: پوست شل; Biomechanics; Cutis laxa; Skin ageing; Skin relief; Skin Young's modulus;
Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature
Keywords: پوست شل; Thoracic aortic aneurysm; Molecular genetic basis; Cutis laxa;
Effect of the R119G mutation on human P5CR structure and its interactions with NAD: Insights derived from molecular dynamics simulation and free energy analysis
Keywords: پوست شل; P5CR; Cutis laxa; Molecular dynamics; Binding free energy;
Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability
Keywords: پوست شل; ARCL; autosomal recessive CL; CL; cutis laxa; EDS; Ehlers-Danlos syndrome; MD; molecular dynamics; OI; osteogenesis imperfecta;
Pseudoxanthome élastique variant avec déficit en facteurs de coagulation vitamine K-dépendants et perte d'élasticité cutanée
Keywords: پوست شل; Pseudoxanthome élastique; Pseudoxanthome élastique variant; Cutis laxa; Déficit en facteurs de coagulation vitamine K-dépendants; Gène GGCX; Pseudoxanthoma elasticum; Pseudoxanthoma elasticum-like; Cutis laxa; Deficiency of vitamin K-dependent clotti
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature
Keywords: پوست شل; Cutis laxa; ALDH18A1; Abnormal fat distribution; Retinopathy
Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies
Keywords: پوست شل; TGFβ, transforming growth factor beta; cb-EGF, calcium binding epidermal growth factorElastic fibers; Integrin; Collagen fibers; Aortic aneurysm; Cutis laxa; ECM
Sepultura !
Keywords: پوست شل; Maladie des chaînes lourdes; Gammapathie monoclonale; Cutis laxa; Heavy chain deposition disease; Monoclonal gammopathy; Cutis laxa;
Enfermedades hereditarias del colágeno y del tejido elástico
Keywords: پوست شل; Colágeno; Fibras elásticas; SÃndrome de Ehlers-Danlos; Seudoxantoma elástico; Cutis laxa; SÃndrome de Buschke-Ollendorf; SÃndrome de Marfan;
Pulmonary Complications of Dermatological Disorders
Keywords: پوست شل; yellow nail syndrome; neurofibromatosis; tuberous sclerosis complex; hereditary haemorrhagic telangiectasia; klippel-trénaunay-weber syndrome; cutis laxa; ehlers-danlos syndrome; hermansky-pudlak syndrome; erythema multiforme; mastocytosis; dyskeratosis
Cutis laxa: A review
Keywords: پوست شل; cutis laxa; elastic tissue; elastin; fibulin-4; fibulin-5; genodermatosis; ACL; acquired cutis laxa; ADCL; autosomal dominant cutis laxa; ARCL; autosomal recessive cutis laxa; ATS; arterial tortuosity syndrome; CL; cutis laxa; DBS; De Barsy syndrome; EDS;
Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal
Keywords: پوست شل; Síndrome de Sotos; Defectos congénitos de glucosilación; Cutis laxa; Mutación nonsense; Gen NSD1Sotos syndrome; Congenital disorders of glycosylation; Overgrowth syndrome; Cutis laxa; NSD1 gene; Nonsense mutation
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Keywords: پوست شل; Glycosylation; Cutis laxa; V-ATPase; Congenital disorders of glycosylation; OMIM 219200; Apolipoprotein C III
Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation
Keywords: پوست شل; Congenital disorder of glycosylation; Cutis laxa; Isoelectrofocusing; Tf; Apolipoprotein C-III; Polymicrogyria
Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies
Keywords: پوست شل; Familial amyloid polyneuropathy; Finnish type; Gelsolin mutation (G654A); Corneal lattice dystrophy; Cutis laxa; Lichen amyloidosus;
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
Keywords: پوست شل; ApoC-III; apolipoproteinC-III; CDG; congenital disorders of glycosylation; UDP-Gal; uridine 5â²diphosphogalactose; Gal; galactose; GalNAc; N-acetylgalactosamine; CMP-NeuAc; cytidine 5â² monophospho-N-acetylneuraminic acid; NeuAc; N-acetylneuraminic acid