Found: 19
Select item for more details and to access through your institution.
Leupaxin acts as a mediator in prostate carcinoma progression through deregulation of p120catenin expression.
- Published in:
- Oncogene, 2009, v. 28, n. 45, p. 3971, doi. 10.1038/onc.2009.254
- By:
- Publication type:
- Article
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 6, p. 552, doi. 10.1111/cge.12314
- By:
- Publication type:
- Article
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 6, p. 593, doi. 10.1111/j.1399-0004.2009.01363.x
- By:
- Publication type:
- Article
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 279, doi. 10.1111/j.1399-0004.2008.01022.x
- By:
- Publication type:
- Article
'Relabelling the preserved speech variant of Rett syndrome?'.
- Published in:
- 2010
- By:
- Publication type:
- Letter
VP18.06: Outcome of fetuses diagnosed with a heterotaxy syndrome: a retrospective evaluation of clinical outcome over 21 years.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 131, doi. 10.1002/uog.22613
- By:
- Publication type:
- Article
Reply.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Autosomal dominant cerebellar ataxia type I MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.
- Published in:
- Brain: A Journal of Neurology, 1998, v. 121, n. 9, p. 1687, doi. 10.1093/brain/121.9.1687
- By:
- Publication type:
- Article
The natural history of degenerative ataxia: a retrospective study in 466 patients.
- Published in:
- 1998
- By:
- Publication type:
- Journal Article
The natural history of degenerative ataxia; a retrospective study in 466 patients.
- Published in:
- Brain: A Journal of Neurology, 1998, v. 121, n. 4, p. 589, doi. 10.1093/brain/121.4.589
- By:
- Publication type:
- Article
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.
- Published in:
- Brain: A Journal of Neurology, 1997, v. 120, n. 12, p. 2141, doi. 10.1093/brain/120.12.2141
- By:
- Publication type:
- Article
Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3.
- Published in:
- Brain: A Journal of Neurology, 1996, v. 119, n. 5, p. 1497
- By:
- Publication type:
- Article
Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie.
- Published in:
- Der Orthopäde, 2013, v. 42, n. 11, p. 963, doi. 10.1007/s00132-013-2182-1
- By:
- Publication type:
- Article
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 286, doi. 10.1002/pd.1408
- By:
- Publication type:
- Article
MeCP2 Mutant Protein Is Expressed in Astrocytes as well as in Neurons and Localizes in the Nucleus.
- Published in:
- Cytogenetic & Genome Research, 2010, v. 129, n. 4, p. 290, doi. 10.1159/000315906
- By:
- Publication type:
- Article
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
- Published in:
- Human Mutation, 2001, v. 17, n. 3, p. 183, doi. 10.1002/humu.3
- By:
- Publication type:
- Article
Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease.
- Published in:
- Human Mutation, 1995, v. 5, n. 1, p. 103, doi. 10.1002/humu.1380050116
- By:
- Publication type:
- Article