Found: 12
Select item for more details and to access through your institution.
Peptide Patterns as Discriminating Biomarkers in Plasma of Patients With Familial Adenomatous Polyposis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12418, doi. 10.3390/ijms241512418
- By:
- Publication type:
- Article
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
- By:
- Publication type:
- Article
Association between Pancreatoblastoma and Familial Adenomatous Polyposis: Review of the Literature with an Additional Case.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 44, doi. 10.3390/genes15010044
- By:
- Publication type:
- Article
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
- By:
- Publication type:
- Article
Factors affecting the treatment of multiple colorectal adenomas.
- Published in:
- Surgical Endoscopy & Other Interventional Techniques, 2013, v. 27, n. 1, p. 207, doi. 10.1007/s00464-012-2421-2
- By:
- Publication type:
- Article
APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation.
- Published in:
- International Journal of Biological Markers, 2012, v. 27, n. 1, p. 13, doi. 10.5301/JBM.2011.8908
- By:
- Publication type:
- Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1183, doi. 10.1002/humu.24012
- By:
- Publication type:
- Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
- Published in:
- Human Mutation, 2019, v. 40, n. 9, p. 1346, doi. 10.1002/humu.23822
- By:
- Publication type:
- Article
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717
- By:
- Publication type:
- Article
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1831
- By:
- Publication type:
- Article
Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.587
- By:
- Publication type:
- Article