about
SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopeniaH3M2: detection of runs of homozygosity from whole-exome sequencing data.Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.Characterization and identification of hidden rare variants in the human genome.Epilepsy with auditory features: A heterogeneous clinico-molecular disease.Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.Mutations of RUNX1 in families with inherited thrombocytopenia.Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsFirst missense mutation in an Italian proband with optic atrophy and deafnessSSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderLoss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopeniaLoss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Flavia Palombo
@ast
Flavia Palombo
@en
Flavia Palombo
@es
Flavia Palombo
@nl
type
label
Flavia Palombo
@ast
Flavia Palombo
@en
Flavia Palombo
@es
Flavia Palombo
@nl
prefLabel
Flavia Palombo
@ast
Flavia Palombo
@en
Flavia Palombo
@es
Flavia Palombo
@nl
P106
P1153
56015537400
P31
P496
0000-0002-1639-3764