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diagnosis differential management pathophysiology clinical hematology syndrome signs algorithm symptoms causes endocrinology nejm nephrology neurology pathology radiology syndromes treatment cardiology
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... molecular defect, CFTR mutations ... Other mutations ... CysticFibrosis #Mutations ... #CFTR #ModulatorTherapy
Distal Renal Tubular Acidosis Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
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
Classification of Diabetes Insipidus Central or neurogenic diabetes insipidus: - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations
HIV Antiretroviral Medications Cheat Sheet NRTIs Integrase Inhibitors NNRTIs PIs Fusion Inhibitors CCR5 Antagonist Post Attachment Inhibitor Combination Pills NRTI-Sparing Resistance Mutations Summary - https://hivdb.stanford.edu/ By
NRTI-Sparing Resistance Mutations
Normal Values echocardiographic ​​diastolic parameters - Velocities, Ratios and Durations #Diagnosis #Cardiology #Diastology #Normal #Parameters #Values #Diastolic
Velocities, Ratios and Durations
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
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