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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationDisruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationThe EULAR points to consider for use of antirheumatic drugs before pregnancy, and during pregnancy and lactationHereditary spastic paraplegia caused by mutations in the SPG4 geneMutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationMutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expressionUBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophyTocilizumab use in pregnancy: Analysis of a global safety database including data from clinical trials and post-marketing data.Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.Nonsyndromic X-linked mental retardation: where are the missing mutations?Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeBreakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.Allopurinol Use during Pregnancy - Outcome of 31 Prospectively Ascertained Cases and a Phenotype Possibly Indicative for Teratogenicity.Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.Pregnancy Outcome After First Trimester Use of Methyldopa: A Prospective Cohort Study.Pregnancy outcome after exposure to the novel oral anticoagulant rivaroxaban in women at suspected risk for thromboembolic events: a case series from the German Embryotox Pharmacovigilance Centre.Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.New Alström syndrome phenotypes based on the evaluation of 182 cases.Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.Fine mapping of the Schnyder's crystalline corneal dystrophy locus.No evidence for an increased risk of adverse pregnancy outcome after paternal low-dose methotrexate: an observational cohort study.Suicide attempt during late pregnancy with quetiapine: nonfatal outcome despite severe intoxication.Oppenheim's myatonia congenita.Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.Pregnancy outcome after first trimester use of angiotensin AT1 receptor blockers: an observational cohort study.Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services.Hypergonadotropic hypogonadism in a patient with inv ins (2;4).Pregnancy outcome after first trimester exposure to bisoprolol: an observational cohort studyPregnancy outcome after paternal exposure to azathioprine/6-mercaptopurineHeterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3Molecular characterization of a balanced chromosome translocation in psoriasis vulgarisFehlende Gyrierung des Gehirns bei einem SGA-NeugeborenenExtension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutationsSchnydersche kristalline HornhautdystrophieNovel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1Erratum: Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Maria Hoeltzenbein
@ast
Maria Hoeltzenbein
@en
Maria Hoeltzenbein
@es
Maria Hoeltzenbein
@nl
Maria Hoeltzenbein
@sl
type
label
Maria Hoeltzenbein
@ast
Maria Hoeltzenbein
@en
Maria Hoeltzenbein
@es
Maria Hoeltzenbein
@nl
Maria Hoeltzenbein
@sl
prefLabel
Maria Hoeltzenbein
@ast
Maria Hoeltzenbein
@en
Maria Hoeltzenbein
@es
Maria Hoeltzenbein
@nl
Maria Hoeltzenbein
@sl
P1053
B-1134-2016
P106
P1153
56106335300
P21
P31
P3829
P496
0000-0002-2451-4247