Works matching AU Micalizzi, Alessia
Results: 19
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.
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- Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293
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- Article
A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.
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- Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
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- Article
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
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- Human Genetics, 2015, v. 134, n. 1, p. 123, doi. 10.1007/s00439-014-1508-3
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- Article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
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- Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 594, doi. 10.3390/diagnostics14060594
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- 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.
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- Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
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- Article
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
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- 2017
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- journal article
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
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- 2017
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- journal article
COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.
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- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1417873
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- Article
COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.
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- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1417873
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- Article
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
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- Neurogenetics, 2016, v. 17, n. 3, p. 191, doi. 10.1007/s10048-016-0488-y
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- Article
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
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- Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
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- Article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
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- Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
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- Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
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- 2022
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- journal article
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
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- 2019
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- journal article
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.
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- 2016
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- journal article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
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- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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- 2014
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- Case Study
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
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- Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
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- Article
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
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- Molecular Biology Reports, 2020, v. 47, n. 1, p. 711, doi. 10.1007/s11033-019-05109-7
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- Article