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Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Mutations in proteasome-related genes are associated with thyroid hemiagenesisSimple technique for RNA purification from mouse inner ear hair cells.Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusLocalization of a gene for keratoconus to a 5.6-Mb interval on 13q32.IGF-1 gene polymorphisms in Polish families with high-grade myopiaA study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas.Polymorphism of the DNA repair genes RAD51 and XRCC2 in smoking- and drinking-related laryngeal cancer in a Polish population.Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.Identification of candidate genes and mutations in QTL regions for immune responses in chicken.Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.The MRN protein complex genes: MRE11 and RAD50 and susceptibility to head and neck cancers.Induction of expression of aryl hydrocarbon receptor-dependent genes in human HepaRG cell line modified by shRNA and treated with β-naphthoflavoneKTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas.Genomics and epigenomics of clear cell renal cell carcinoma: recent developments and potential applications.Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.Diversified expression of aryl hydrocarbon receptor dependent genes in human laryngeal squamous cell carcinoma cell lines treated with β-naphthoflavone.Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis.Evidence against ZNF469 being causative for keratoconus in Polish patients.Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Second primary tumors (SPT) of head and neck: distinguishing of "true" SPT from micrometastasis by LOH analysis of selected chromosome regions.Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.Identification of novel suggestive loci for high-grade myopia in Polish families[Mutations of tumor suppressor gemne TP53 in tobacco smoke-associated tumors].The Cys326 allele of the 8-oxoguanine DNA N-glycosylase 1 gene as a risk factor in smoking- and drinking-associated larynx cancer.Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer.[Myopia in systemic disorders].Genotoxicity of inhalation anaesthetics: DNA lesions generated by sevoflurane in vitro and in vivo.Influence of genetic polymorphisms on biomarkers of exposure and effects in children living in Upper Silesia.Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.[Distribution of alcohol dehydrogenase (ADH1C) genotypes in subjects with tobacco smoke-associated laryngeal cancer].CYP1A1, CYP2D6, CYP2E1, NAT2, GSTM1 and GSTT1 polymorphisms or their combinations are associated with the increased risk of the laryngeal squamous cell carcinoma.[Incidence of multiple (second) primary tumors of head and neck following tobacco smoking].Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
P50
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P50
description
Polish geneticist
@en
Pools onderzoekster
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genetista polaca
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investigadora polaca
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polska genetyk
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name
Malgorzata Rydzanicz
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Malgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
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type
label
Malgorzata Rydzanicz
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Malgorzata Rydzanicz
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Małgorzata Rydzanicz
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Małgorzata Rydzanicz
@de
Małgorzata Rydzanicz
@en
Małgorzata Rydzanicz
@es
Małgorzata Rydzanicz
@fr
Małgorzata Rydzanicz
@ga
Małgorzata Rydzanicz
@it
Małgorzata Rydzanicz
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prefLabel
Malgorzata Rydzanicz
@nl
Malgorzata Rydzanicz
@sl
Małgorzata Rydzanicz
@ca
Małgorzata Rydzanicz
@de
Małgorzata Rydzanicz
@en
Małgorzata Rydzanicz
@es
Małgorzata Rydzanicz
@fr
Małgorzata Rydzanicz
@ga
Małgorzata Rydzanicz
@it
Małgorzata Rydzanicz
@pl
P1412
P21
P214
63152682497023310014
P27
P31
P496
0000-0002-6969-0535
P735
P7859
viaf-63152682497023310014