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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-75
- By:
- Publication type:
- Article
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 978, doi. 10.1002/ajmg.a.62006
- By:
- Publication type:
- Article
Enhancing Vibration Reduction on Lightweight Lower Control Arm.
- Published in:
- Shock & Vibration, 2020, p. 1, doi. 10.1155/2020/8891831
- By:
- Publication type:
- Article
The Language of Pain in the Hypermobile Ehlers–Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 7, p. 1042, doi. 10.3390/brainsci13071042
- By:
- Publication type:
- Article
Nafion® Tubing Humidification System for Polymer Electrolyte Membrane Fuel Cells.
- Published in:
- Energies (19961073), 2019, v. 12, n. 9, p. 1773, doi. 10.3390/en12091773
- By:
- Publication type:
- Article
Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-309
- By:
- Publication type:
- Article
Elasto-kinematics design of an innovative composite material suspension system.
- Published in:
- Mechanical Sciences, 2017, v. 8, n. 1, p. 11, doi. 10.5194/ms-8-11-2017
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- Publication type:
- Article
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 396, doi. 10.1111/cge.13683
- By:
- Publication type:
- Article
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 5, p. 778, doi. 10.1002/ana.22321
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- Publication type:
- Article
PARK6-linked parkinsonism occurs in several European families.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Validation of a Simulation Methodology for Thermoplastic and Thermosetting Composite Materials Considering the Effect of Forming Process on the Structural Performance.
- Published in:
- Polymers (20734360), 2020, v. 12, n. 12, p. 2801, doi. 10.3390/polym12122801
- By:
- Publication type:
- Article
Feasibility Study of an Innovative Urban Electric-Hybrid Microcar.
- Published in:
- International Journal of Automotive Technology, 2019, v. 20, n. 2, p. 237, doi. 10.1007/s12239-019-0023-x
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- Publication type:
- Article
Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 8, p. 1000, doi. 10.1002/pd.6158
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- Publication type:
- Article
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 565, doi. 10.1002/humu.20719
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- Publication type:
- Article
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders.
- Published in:
- Genes, 2019, v. 10, n. 6, p. 442, doi. 10.3390/genes10060442
- By:
- Publication type:
- Article
From Design to Manufacture of a Carbon Fiber Monocoque for a Three-Wheeler Vehicle Prototype.
- Published in:
- Materials (1996-1944), 2019, v. 12, n. 3, p. 332, doi. 10.3390/ma12030332
- By:
- Publication type:
- Article
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset.
- Published in:
- Annals of Neurology, 2001, v. 49, n. 3, p. 362, doi. 10.1002/ana.73
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- Publication type:
- Article
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8
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- Publication type:
- Article
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
- Published in:
- Movement Disorders, 2014, v. 29, n. 12, p. 1561, doi. 10.1002/mds.25994
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- Publication type:
- Article
Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees.
- Published in:
- Movement Disorders, 2013, v. 28, n. 6, p. 813, doi. 10.1002/mds.25518
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- Publication type:
- Article
Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria.
- Published in:
- Movement Disorders, 2013, v. 28, n. 6, p. 787, doi. 10.1002/mds.25506
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- Publication type:
- Article
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
- Published in:
- Movement Disorders, 2009, v. 24, n. 16, p. 2350, doi. 10.1002/mds.22816
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- Publication type:
- Article
Mutation screening of the DYT6/ THAP1 gene in Italy.
- Published in:
- Movement Disorders, 2009, v. 24, n. 16, p. 2424, doi. 10.1002/mds.22861
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- Publication type:
- Article
GIGYF2 variants are not associated with Parkinson's disease in Italy.
- Published in:
- Movement Disorders, 2009, v. 24, n. 12, p. 1867, doi. 10.1002/mds.22640
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- Publication type:
- Article
Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study.
- Published in:
- Movement Disorders, 2008, v. 23, n. 6, p. 881, doi. 10.1002/mds.21960
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- Publication type:
- Article
Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 312, doi. 10.1002/humu.10127
- By:
- Publication type:
- Article
Experimental Characterization of Damped CFRP Materials with an Application to a Lightweight Car Door.
- Published in:
- Shock & Vibration, 2017, p. 1, doi. 10.1155/2017/7129058
- By:
- Publication type:
- Article