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Inherited ichthyoses: molecular causes of the disease in Czech patients
by
Borská, Romana
,
Pinková, Blanka
,
Réblová, Kamila
,
Bučková, Hana
,
Kopečková, Lenka
,
Němečková, Jitka
,
Puchmajerová, Alena
,
Malíková, Marcela
,
Hermanová, Markéta
,
Fajkusová, Lenka
Published in
Orphanet journal of rare diseases
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Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
by
Procházková, Dagmar
,
Borská, Romana
,
Fajkusová, Lenka
,
Konečná, Petra
,
Hloušková, Eliška
,
Pavlovský, Zdeněk
,
Slabý, Ondřej
,
Pospíšilová, Šárka
Published in
Diagnostics (Basel)
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Atp-Binding Cassette Transporters - Genetics
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Autosomal Recessive Congenital Ichthyosis
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