1359 results
clinical diagnosis sign physicalexam symptoms video pocus cardiology radiology neurology pathophysiology management pulmonary differential ultrasound msk pediatrics endocrinology orthopedics algorithm
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome - Signs ... fibrillin function - Autosomal ... Syndrome #Diagnosis #Signs
Malignant Hyperpyrexia A rare complciation of halothane or suxamethonium. Predisposition to developing this is inherited (autosomal dominant). #Malignant #Hyperpyrexia
is inherited (autosomal ... #Hyperthermia #Signs
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) Hereditary multiple neurofibromas. Autosomal dominant with high rate
Autosomal dominant ... VonRecklinghausens #Syndrome #Signs
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Fibrosis An autosomal ... CysticFibrosis #Signs
Myotonic Dystrophy Typically presents in middle age with weakness of hands, legs and neck. - Mental deficiency
can occur) - Autosomal ... Myotonia #Diagnosis #signs
Features of a Sickle Cell Crisis Sickle-cell disease - an autosomal recessive blood disorder. Characterized by red
Sickle-cell disease - an autosomal ... Crisis #Features #Signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Clinical Findings Autosomal ... Signs/Symptoms/Complications
Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
Abdominal Pain - Physical Examination Signs and Maneuvers - Murphy's sign - Kehr's sign - McBurney's
- Kehr's sign ... - McBurney's sign ... - Psoas sign ... - Obturator's sign ... - Cough sign
CT Lung Signs in Pulmonary Diseases - One Page Summary of Pulmonary Signs - Air Crescent
CT Lung Signs in ... - Air Crescent sign ... - Monod sign ... sign) - Cheerio ... sign - Corona
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