about
H+/myo-inositol transporter genes, hmit-1.1 and hmit-1.2, have roles in the osmoprotective response in Caenorhabditis elegans.Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.Growth pattern of Rahman syndrome.Expansion of the phenotype of Kosaki overgrowth syndrome.Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.Truncating mutation in CSNK2B and myoclonic epilepsy.Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesisSchuurs-Hoeijmakers syndrome in two patients from JapanEstablishingSONin 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotypeThree patients with DeSanto-Shinawi syndrome: Further phenotypic delineationSystemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance associationPreaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2ACNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial featuresIFT172 as the 19th gene causative of oral-facial-digital syndromeA case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndromeSATB2-associated syndrome in patients from Japan: Linguistic profilesNoninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samplesSevere Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancersAblepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitutionConsecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomesShortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Tomoko Uehara
@ast
Tomoko Uehara
@en
Tomoko Uehara
@es
Tomoko Uehara
@nl
type
label
Tomoko Uehara
@ast
Tomoko Uehara
@en
Tomoko Uehara
@es
Tomoko Uehara
@nl
prefLabel
Tomoko Uehara
@ast
Tomoko Uehara
@en
Tomoko Uehara
@es
Tomoko Uehara
@nl
P106
P1153
57031359400
P31
P496
0000-0002-1497-7686