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Spectrum of JAG1 gene mutations in Polish patients with Alagille syndromeClinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.Four novel RSK2 mutations in females with Coffin-Lowry syndrome.Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patientA novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family
P50
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P50
description
Pools onderzoekster
@nl
researcher ORCID ID = 0000-0003-3710-632X
@en
name
Dorota Jurkiewicz
@ast
Dorota Jurkiewicz
@ca
Dorota Jurkiewicz
@cs
Dorota Jurkiewicz
@en
Dorota Jurkiewicz
@es
Dorota Jurkiewicz
@ga
Dorota Jurkiewicz
@gl
Dorota Jurkiewicz
@hr
Dorota Jurkiewicz
@hsb
Dorota Jurkiewicz
@it
type
label
Dorota Jurkiewicz
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Dorota Jurkiewicz
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Dorota Jurkiewicz
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Dorota Jurkiewicz
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Dorota Jurkiewicz
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Dorota Jurkiewicz
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Dorota Jurkiewicz
@gl
Dorota Jurkiewicz
@hr
Dorota Jurkiewicz
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Dorota Jurkiewicz
@it
prefLabel
Dorota Jurkiewicz
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Dorota Jurkiewicz
@ca
Dorota Jurkiewicz
@cs
Dorota Jurkiewicz
@en
Dorota Jurkiewicz
@es
Dorota Jurkiewicz
@ga
Dorota Jurkiewicz
@gl
Dorota Jurkiewicz
@hr
Dorota Jurkiewicz
@hsb
Dorota Jurkiewicz
@it
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Dorota Jurkiewicz
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P21
P27
P31
P3124
P496
0000-0003-3710-632X