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UnknownExome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.
Not available
S-EPMC5567145 | biostudies-literature
UnknownVariants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.
Not available
S-EPMC11795737 | biostudies-literature
UnknownRNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
Not available
S-EPMC8222830 | biostudies-literature
UnknownConstitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.
Not available
S-EPMC4032172 | biostudies-literature
UnknownArteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.
Not available
S-EPMC12010119 | biostudies-literature
UnknownNatural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
Not available
S-EPMC9859903 | biostudies-literature
UnknownVein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center.
Not available
S-EPMC10426803 | biostudies-literature
UnknownMoyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Not available
S-EPMC10047491 | biostudies-literature
UnknownGenotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Not available
S-EPMC8070780 | biostudies-literature
UnknownExpanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Not available
S-EPMC9397032 | biostudies-literature
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