7 results on '"Bässmann, Ingelore"'
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2. Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
3. Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
4. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
5. Detection of novelNF1 mutations and rapid mutation prescreening with Pyrosequencing
6. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
7. Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
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