General aspects of aetiology, diagnostics and therapy
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Elsevier
Reference685 articles.
1. Noonan phenotype associated with neurofibromatosis;Allanson;Am J Med Genet,1985
2. Characterization of point mutations with X-linked ichthyosis: effects on the structure and function of the steroid sulfatase protein;Alperin;J Biol Chem,1997
3. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations;Aradhya;Hum Mol Genet,2001
4. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease;Arch;Am J Med Genet,1997
5. A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene;Ars;Am J Hum Genet,1998
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