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Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair FolliclesAnalysis of discordant Affymetrix probesets casts serious doubt on idea of microarray data reutilization.Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region.Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development.Inhibition of potassium currents as a pharmacologic target for investigation in chronic lymphocytic leukemia.Clouston syndrome: first case in Russia.ASSA: Fast identification of statistically significant interactions between long RNAs.Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assayTwo novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrumComprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian FederationLMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndromeNoncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defectEpidemiology of Hereditary Diseases in the Karachay-Cherkess RepublicAnalysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis PatientsAnalysis of genotype-phenotype correlations in PAX6-associated aniridia
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Andrey Marakhonov
@ast
Andrey Marakhonov
@en
Andrey Marakhonov
@es
Andrey Marakhonov
@nl
Andrey Marakhonov
@sl
type
label
Andrey Marakhonov
@ast
Andrey Marakhonov
@en
Andrey Marakhonov
@es
Andrey Marakhonov
@nl
Andrey Marakhonov
@sl
prefLabel
Andrey Marakhonov
@ast
Andrey Marakhonov
@en
Andrey Marakhonov
@es
Andrey Marakhonov
@nl
Andrey Marakhonov
@sl
P1053
C-9782-2014
P106
P1153
24559127100
P21
P31
P3829
P496
0000-0002-0972-5118