Results 31 to 40 of about 2,406,008 (205)
Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
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Histopathology of the gut in rheumatic diseases [PDF]
, 2018 The gastrointestinal tract regulates the trafficking of macromolecules between the environment and the host through an epithelial barrier mechanism and is an important part of the immune system controlling the equilibrium between tolerance and immunity ...
Ciccia F. +4 more
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Osteoclast Genetic Diseases [PDF]
, 2011 Bone is a specialized connective tissue that performs many important functions: (i) mechanical, supporting the whole body and allowing the movements; (ii) protective, shielding many vital organs, such as brain, lung, heart and bone marrow; (iii) metabolic, regulating the homeostasis of calcium and phosphate (Baron, 1999); (iv) endocrine, regulating ...
Del Fattore A, TETI, ANNA MARIA
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Physiological conditions influencing regenerative potential of stem cells [PDF]
, 2016 Stem cells are being used in the treatment of cardivovascular diseases. Here, we review the physiologic and pathologic conditions that impact the regenerative potential of stem cells in the treatment of cardiovascular diseases which include the influence
Avitabile, Daniele +3 more
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Genetics of Alzheimer's Disease [PDF]
Neurotherapeutics, 2014 The analyses of genetic factors contributing to Alzheimer's disease (AD) and other dementias have evolved at the same pace as genetic and genomic technologies are developed and improved. The identification of the first genes involved in AD arose from family-based studies, but risk factors have mainly been identified by studies comparing groups of ...
Guerreiro, R, Hardy, J
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Genetic screening techniques and diseases for neonatal genetic diseases [PDF]
Journal of Zhejiang University (Medical Sciences), 2021 Neonatal genetic disease is currently screened mainly based on metabolite biochemical technology. The false positive rate of biochemical screening technology is relatively high, and there are certain false negatives, and only few types of diseases can be screened. The genetic techniques have been gradually used for neonatal genetic disease screening in
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Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
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The Lancet, 2010 Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly ...
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Ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşleri
Adıyaman Üniversitesi Sağlık Bilimleri Dergisi, 2022 Amaç: Araştırma, ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşlerini belirlemek amacıyla yapılmıştır.Gereç ve Yöntem: Araştırma 1 Aralık-31 Mayıs 2017 tarihleri arasında, tanımlayıcı tipte, 10 fakülte ...
Rukiye Demir +2 more
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Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]
, 2007 The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat +10 more
core +5 more sources