mutation
180 results
63 - 162- transmutation
- ivacaftor
- Bartlett-Biedel syndrome
- diagnostic
- phenocopy
- factor
- subtype
- Denys-Drash syndrome
- elexacaftor/tezacaftor/ivacaftor
- mosaic
- transversion
- dominant optic atrophy and deafness
- midostaurin
- genotype
- panitumumab
- osimertinib
- viral breakthrough
- avapritinib
- larotrectinib
- Ghent nosology
- achondroplasia
- Guillain-Barré Syndrome
- tumor necrosis factor receptor-associated periodic syndrome
- Hemophilia
- Sickle Cell Disease
- rucaparib
- juvenile hemochromatosis
- entrectinib
- maternally inherited diabetes and deafness
- Arterial Occlusive Disease
- Goiter
- Duchenne, Guillaume B. A.
- myelofibrosis
- encorafenib
- cetuximab
- Hypophosphatemia
- lumacaftor/ivacaftor
- alpelisib
- Leukemia, Chronic
- dabrafenib
- Hypercalcemia
- Hypoglycemia
- Fukuyama disease
- Sudden Infant Death Syndrome
- Ventricular Dysrhythmias
- McArdle disease
- polymorphism
- Atrial Dysrhythmias
- Hypochloremia
- Muscular Dystrophy
- Amyotrophic Lateral Sclerosis
- imatinib
- Breast Cancer
- Pheochromocytoma
- Sarcoidosis
- Polycythemia
- Thrombophlebitis
- Menkes disease
- chromosome
- Angina Pectoris
- Ham Test for Paroxysmal Nocturnal Hemoglobinuria
- Melanoma Skin Cancer
- niraparib
- Genetic Testing
- atezolizumab
- dacomitinib
- Marfan syndrome
- Alexander disease
- olaparib
- gilteritinib
- Sodium, Blood and Sodium, Urine
- CD4/CD8 Enumeration and Viral Load Testing
- Glucose-6-Phosphate Dehydrogenase
- vemurafenib
- Potassium, Blood and Potassium, Urine
- Coagulation Factors
- polycythemia
- Biopsy, Bone Marrow
- Cholinesterases: Acetylcholinesterase, Pseudocholinesterase and Dibucaine Number
- Prostate Cancer
- Cancer Markers
- Protein C and Protein S
- Chromosome Analysis, Blood
- cobimetinib
- fam-trastuzumab deruxtecan