Found: 21
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Women at familial risk of breast cancer electing for prophylactic mastectomy: frequencies, procedures, and decision-making characteristics.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1878, doi. 10.1002/ajmg.a.38252
- By:
- Publication type:
- Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164
- By:
- Publication type:
- Article
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1502, doi. 10.1002/ajmg.a.37632
- By:
- Publication type:
- Article
Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 553, doi. 10.1002/ajmg.a.36897
- By:
- Publication type:
- Article
Central 22q11.2 deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
- By:
- Publication type:
- Article
Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3088, doi. 10.1002/ajmg.a.36770
- By:
- Publication type:
- Article
A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 680, doi. 10.1002/ajmg.a.34433
- By:
- Publication type:
- Article
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1627, doi. 10.1038/ejhg.2015.46
- By:
- Publication type:
- Article
Next-generation sequencing in X-linked intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
- By:
- Publication type:
- Article
Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening: a monocenter study in Germany.
- Published in:
- Breast Cancer Research & Treatment, 2016, v. 156, n. 2, p. 289, doi. 10.1007/s10549-016-3748-5
- By:
- Publication type:
- Article
Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
- Published in:
- Breast Cancer Research & Treatment, 2014, v. 145, n. 2, p. 451, doi. 10.1007/s10549-014-2943-5
- By:
- Publication type:
- Article
Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
- Published in:
- Breast Cancer Research & Treatment, 2012, v. 133, n. 2, p. 725, doi. 10.1007/s10549-011-1917-0
- By:
- Publication type:
- Article
Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?
- Published in:
- Familial Cancer, 2012, v. 11, n. 3, p. 529, doi. 10.1007/s10689-012-9538-2
- By:
- Publication type:
- Article
Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 12, p. 1119, doi. 10.1002/gcc.20498
- By:
- Publication type:
- Article
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00134
- By:
- Publication type:
- Article
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224
- By:
- Publication type:
- Article
Compilation of Genotype and Phenotype Data in GCDH -LOVD for Variant Classification and Further Application.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2218, doi. 10.3390/genes14122218
- By:
- Publication type:
- Article
Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177893
- By:
- Publication type:
- Article