Rare Diseases
Records 1 - 4 (of 4 Records) |
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[Noonan syndrome: genetic and clinical update and treatment options]. Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May |
Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features. Kuehne Benjamin et al. Molecular and cellular probes 2019 Mar |
Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders L Geddes, Mosaic, September 18, 2018 |
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90 |