Found: 12
Select item for more details and to access through your institution.
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0514-z
- By:
- Publication type:
- Article
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.
- Published in:
- 2012
- By:
- Publication type:
- journal article
PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER.
- Published in:
- Clinical Neuropsychiatry, 2011, v. 8, n. 6, p. 347
- By:
- Publication type:
- Article
SEROTONINERGIC AND DOPAMINERGIC GENES IN BIPOLAR DISORDER AND RESPONSE TO TREATMENTS IN BIPOLAR DEPRESSION. INVESTIGATION ON A WELL-CHARACTERIZED NATURALISTIC SAMPLE.
- Published in:
- Clinical Neuropsychiatry, 2011, v. 8, n. 5, p. 295
- By:
- Publication type:
- Article
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.
- Published in:
- British Journal of Haematology, 2015, v. 171, n. 4, p. 557, doi. 10.1111/bjh.13651
- By:
- Publication type:
- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
- By:
- Publication type:
- Article
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
- By:
- Publication type:
- Article
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18
- By:
- Publication type:
- Article
Clinical utility gene card for: poikiloderma with neutropenia.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.298
- By:
- Publication type:
- Article
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922
- By:
- Publication type:
- Article
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance.
- Published in:
- Journal of Psychopharmacology, 2010, v. 24, n. 12, p. 1747, doi. 10.1177/0269881109353463
- By:
- Publication type:
- Article