Found: 20
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Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Cobblestone‐like brain malformation with a new bi‐allelic ADGRG1 (GPR‐56) mutation: Fetal imaging‐pathology correlation.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 200, doi. 10.1002/ajmg.a.37975
- By:
- Publication type:
- Article
Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.
- Published in:
- World Journal of Surgical Oncology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12957-023-02976-0
- By:
- Publication type:
- Article
Combined Effect of Hemostatic Gene Polymorphisms and the Risk of Myocardial Infarction in Patients with Advanced Coronary Atherosclerosis.
- Published in:
- PLoS ONE, 2008, v. 3, n. 2, p. 1, doi. 10.1371/journal.pone.0001523
- By:
- Publication type:
- Article
ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 959, doi. 10.1038/sj.ejhg.5201854
- By:
- Publication type:
- Article
Reply to Novelli.
- Published in:
- 2006
- By:
- Publication type:
- Letter
On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201513
- By:
- Publication type:
- Article
Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 4, p. 272, doi. 10.1038/sj.ejhg.5201121
- By:
- Publication type:
- Article
Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.
- Published in:
- 2011
- By:
- Publication type:
- Report
Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.
- Published in:
- World Journal of Surgical Oncology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12957-023-02976-0
- By:
- Publication type:
- Article
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 403, doi. 10.1111/cge.14568
- By:
- Publication type:
- Article
SNPs of the FADS Gene Cluster are Associated with Polyunsaturated Fatty Acids in a Cohort of Patients with Cardiovascular Disease.
- Published in:
- Lipids, 2008, v. 43, n. 4, p. 289, doi. 10.1007/s11745-008-3158-5
- By:
- Publication type:
- Article
Combined evaluation of genotype and phenotype of thiopurine S-methyltransferase (TPMT) in the clinical management of patients in chronic therapy with azathioprine.
- Published in:
- Drug Metabolism & Personalized Therapy, 2019, v. 34, n. 1, p. N.PAG, doi. 10.1515/dmpt-2018-0037
- By:
- Publication type:
- Article
Array CGH in routine prenatal diagnosis practice.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 708, doi. 10.1002/pd.3845
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- Publication type:
- Article
De novo balanced chromosome rearrangements in prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 257, doi. 10.1002/pd.2215
- By:
- Publication type:
- Article
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature.
- Published in:
- Neurogenetics, 2024, v. 25, n. 3, p. 281, doi. 10.1007/s10048-024-00754-y
- By:
- Publication type:
- Article
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 2, p. 80, doi. 10.1159/000506097
- By:
- Publication type:
- Article
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.
- Published in:
- BMC Medical Genetics, 2007, v. 8, p. 59, doi. 10.1186/1471-2350-8-59
- By:
- Publication type:
- Article