Search Results - "Lodder, E.M"
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Altered auto-phosphorylation of novel TNNI3K variants associated with AV-nodal re-entry tachycardia and conduction disease
Published in European heart journal (01-11-2020)“…Abstract Background In the past decade, we and others have reported three families with rare genetic variants in TNNI3K, encoding the cardiac-specific…”
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Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1
Published in American journal of medical genetics. Part A (15-08-2008)“…Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog…”
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Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1
Published in American Journal of Medical Genetics Part A (15-08-2008)Get full text
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