1393 results
diagnosis differential clinical causes algorithm management neurology physicalexam video cardiology nephrology pathophysiology treatment table signs symptoms hematology ophthalmology comparison rheumatology
Distal Renal Tubular Acidosis Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... diseases(Sjogren's Syndrome ... - SCNN mutation ... HTN (WNKI and 4 mutations
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome ... - Caused by mutations ... Dominant #Marfans #Syndrome
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome Clinical Syndrome: • Common Clinical Features: alveolitis, ear and
Clinical Syndrome ... myelodysplastic syndrome ... myelodysplastic syndrome ... Features: • somatic mutations ... ubiquitylation • mutations
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Gardner's Syndrome ... Associated with mutation ... #Gardners #Syndrome
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 ... - Down syndrome
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Genetic: Williams syndrome ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Classification of Jaundice Unconjugated hyperbilirubinemia (predominantly indirect bilirubin) • Increased bilirubin production (eg, hemolytic anemias, hemolytic reactions,
Crigler-Najjar syndrome ... Hereditary Cholestatic Syndromes ... Dubin-Johnson syndrome ... , Rotor syndrome ... ) or mutation in
Adenomatous Polyposis Syndromes: Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH associated polyposis (MAP) ✓ Genetic
Adenomatous Polyposis Syndromes ... - Germline APC mutation ... → Turcot Syndrome ... → Gardner syndrome ... Adenomatous #Polyposis #Syndromes
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology Gitelman Syndrome ... to inactivating mutations ... dr_missyhanna #Gitelman #Syndrome
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension) Bartter, Gitelman, Liddle, Primary Aldosteronism, GRA (Glucocorticoid Remediable
Heritable Hypertension Syndromes ... (Activating MR Mutation ... #Hypertension #Syndromes
No results found for "Mutations syndrome"
Try removing search terms or sorting by relevance
Or Upload an image for you and others searching for #Mutations #syndrome