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Characterization of BRCA Deficiency in Ovarian Cancer.
- Published in:
- Cancers, 2023, v. 15, n. 5, p. 1530, doi. 10.3390/cancers15051530
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- Publication type:
- Article
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
- Published in:
- BMC Cancer, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2407-14-70
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- Publication type:
- Article
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
- Published in:
- 2014
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- Publication type:
- journal article
Measles outbreaks in the Emilia-Romagna Region, Italy, during 2016.
- Published in:
- Microbiologia Medica, 2017, v. 32, n. 4, p. 138, doi. 10.4081/mm.2017.7224
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- Publication type:
- Article
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00378
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- Publication type:
- Article
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
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- Publication type:
- Article
Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1169, doi. 10.1038/ejhg.2013.8
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- Publication type:
- Article
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.
- Published in:
- Biomedicines, 2023, v. 11, n. 1, p. 81, doi. 10.3390/biomedicines11010081
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- Publication type:
- Article
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1231434
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- Publication type:
- Article
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
MCPH1: A Novel Case Report and a Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 634, doi. 10.3390/genes13040634
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- Publication type:
- Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
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- Publication type:
- Article
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 962, doi. 10.3390/genes12070962
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- Publication type:
- Article
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 958, doi. 10.1111/j.1469-8749.2011.03993.x
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- Publication type:
- Article
Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 12, p. 2394, doi. 10.1093/hmg/ddr146
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- Publication type:
- Article
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 391, doi. 10.1002/humu.20870
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- Publication type:
- Article
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.
- Published in:
- 2016
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- Publication type:
- journal article
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
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- Publication type:
- Article
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5832, doi. 10.3390/ijms22115832
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- Publication type:
- Article
Consanguinity and Polygenic Diseases: A Model for Antibody Deficiencies.
- Published in:
- Human Heredity, 2014, v. 77, n. 1-4, p. 144, doi. 10.1159/000362364
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- Publication type:
- Article