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THE MED13L HAPLOINSUFFICIENCY SYNDROME ASSOCIATED WITH DE NOVO NONSENSE VARIANT (P.GLN1981*).
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 3, p. 32, doi. 10.34763/jmotherandchild.20202403.2021.d-20-00003
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- Publication type:
- Article
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
- Published in:
- 2021
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- Publication type:
- journal article
Gene Conversion Between Cationic Trypsinogen ( PRSS1) and the Pseudogene Trypsinogen 6 ( PRSS3P2) in Patients with Chronic Pancreatitis.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 350, doi. 10.1002/humu.22747
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- Publication type:
- Article