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Human Genetics|February 1, 1997
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor geneB D Ahlbom, M Yaqoob, A Larsson, et al.
Nature Genetics|December 1, 1994
The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic associationM Pigg, S Jagell, A Sillén, et al.
Experimental Oncology|March 31, 2021
A non-coding cancer mutation disrupting an HNF4α binding motif affects an enhancer regulating genes associated to the progression of liver cancerM Cavalli, K Diamanti, G Pan, et al.
Annals of Tropical Paediatrics|January 1, 1993
Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reactionJ Welihinda, E H Karunanayake, R Jayasekara, et al.
American Journal of Medical Genetics|March 3, 1997
Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish familiesA Sillén, T Sørensen, I Kantola, et al.
European Journal of Human Genetics : EJHG|January 1, 1993
Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well formatJ Aaltonen, J Komulainen, A Vikman, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|November 1, 1991
Evaluation of DNA-based diagnosis for haemophilia AC Wadelius, M Blombäck, P Goonewardena, et al.
Human & Experimental Toxicology|May 16, 2008
Influence of adenosine triphosphate and ABCB1 (MDR1) genotype on the P-glycoprotein-dependent transfer of saquinavir in the dually perfused human placentaM Rahi, T Heikkinen, J Hakkola, et al.
Ophthalmic Genetics|January 5, 2000
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin geneV Ponjavic, L Eksandh, S Andréasson, et al.
Nature Genetics|April 1, 1993
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysisT Sulisalo, P Sistonen, J Hästbacka, et al.
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