1391 results
clinical diagnosis sign physicalexam symptoms video pocus cardiology radiology neurology pathophysiology management differential pulmonary ultrasound msk pediatrics endocrinology algorithm orthopedics
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome - Signs ... - Caused by mutations ... Syndrome #Diagnosis #Signs
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
precursor protein mutations ... Presenilin 1 and 2 gene mutations ... chromosome 21) Signs ... geriatrics #diagnosis #signs
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Polyposis #Diagnosis #Signs
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs ... ophthalmology #diagnosis #signs
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
ß-glucocerebrosidase activity • Mutation ... Disease #Diagnosis #Signs
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
HLA-DR4 mutation ... yrs old; F>M Signs ... Pathophysiology #Diagnosis #Signs
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
arises via sporadic mutation ... Signs of immunodeficiency ... Predisposition -> Mutation ... humoral immunity Signs
Pseudogout: pathogenesis and clinical findings - Idiopathic (vast majority of cases) -> Mechanism unknown - Familial
NTPPPH enzyme and mutations ... CPPD #Disease #Signs
Duchenne Muscular Dystrophy (DMD) The term "Muscular dystrophy" refers to a group of inherited progressive muscle disorders.
spontaneous new mutation ... Diagnosis #Features #Signs
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