about
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutationA novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.Evidence of inbreeding depression on human height.Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?PMM2-CDG: phenotype and genotype in four affected family members.Detection of epidermal thickening in GJB2 carriers with epidermal US.A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.Type I interferon-mediated autoinflammation due to DNase II deficiency.A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome.A brain and heart connection: X-linked periventricular heterotopia.Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.A red baby should not be taken too lightly.Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis."Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis.Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.Target sequencing approach intended to discover new mutations in non-syndromic intellectual disabilityDoes the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literaturePhylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array AnalysisA Girl with Photosensitivity and Hepatic SteatosisA synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elementsTGM5 mutations impact epidermal differentiation in acral peeling skin syndromeVertebral defects in patients with Peters plus syndrome and mutations in B3GALTLDelayed diagnosis of glycogen storage disease type IIIA neonate with a 'milky' blood. What can it be?Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
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հետազոտող
@hy
name
Flavio Faletra
@ast
Flavio Faletra
@en
Flavio Faletra
@es
Flavio Faletra
@nl
Flavio Faletra
@sl
type
label
Flavio Faletra
@ast
Flavio Faletra
@en
Flavio Faletra
@es
Flavio Faletra
@nl
Flavio Faletra
@sl
prefLabel
Flavio Faletra
@ast
Flavio Faletra
@en
Flavio Faletra
@es
Flavio Faletra
@nl
Flavio Faletra
@sl
P106
P1153
25721908400
P21
P31
P496
0000-0003-1483-3612