Search
Search Constraints
You searched for: Author/Creator Breedveld, G J- Breedveld, G J [remove] 4
- 616.042 4
- Medical genetics -- Periodicals 4
- ABL, abetalipoproteinaemia -- AOA, ataxia with oculomotor apraxia -- ARSACS, spastic ataxia of Charlevoix-Saguenay -- AT, ataxia teleangiectasia -- AVED, ataxia with isolated vitamin E deficiency -- CDG 1a, carbohydrate deficient glycoconjugate syndrome 1a -- CMAP, compound muscle action potential -- CTX, cerebrotendinous xanthomatosis -- FRDA, Friedreich's ataxia -- IOSCA, infantile onset spinocerebellar ataxia -- MLD, metachromatic leucodystrophy -- MSU, maple syrup urine disease -- NCV, nerve conduction velocity -- PCARP, posterior column ataxia with retinitis pigmentosa -- RD, Refsum's disease 1
- LD, linkage disequilibrium -- SNP, single nucleotide polymorphism 1
- Parkinson's disease -- mutation -- founder -- LRRK2 -- G2019S 1
- autosomal recessive -- chromosome 11p15 -- spinocerebellar ataxia 1