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Search Results - Grečmalová, Dagmar
Search Results - Grečmalová, Dagmar
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The First Pediatric Case of an IFT140 Heterozygous Deletion Causing Autosomal Dominant Polycystic Kidney Disease: Case Report
by
Seeman, Tomáš
,
Šuláková, Terezie
,
Bosáková, Alice
,
Indráková, Jana
,
Grečmalová, Dagmar
Published in
Case reports in nephrology and dialysis
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Disease‐Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
by
Mészárosová, Anna Uhrová
,
Grečmalová, Dagmar
,
Brázdilová, Michaela
,
Dvořáčková, Nina
,
Kalina, Zdeněk
,
Čermáková, Marie
,
Vávrová, Dagmar
,
Smetanová, Irena
,
Staněk, David
,
Seeman, Pavel
Published in
Annals of human genetics
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A rare form of ankyloblepharon filiforme adnatum associated with the Hay–Wells syndrome and a c.1709T>C mutation on the TP63 gene: Hay–Wells syndrome – novel mutation on the TP63 g...
by
Koubek, Michal
,
Strakošová, Kristýna
,
Timkovič, Juraj
,
Grečmalová, Dagmar
,
Orlíková, Aneta
,
Burčková, Hana
,
Wiedermannová, Hana
,
Mašek, Petr
Published in
Ophthalmic genetics
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Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site
by
Neupauerová, Jana
,
Grečmalová, Dagmar
,
Seeman, Pavel
,
Laššuthová, Petra
Published in
Annals of human genetics
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A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene
by
Koubek, Michal
,
Strakošová, Kristýna
,
Timkovič, Juraj
,
Grečmalová, Dagmar
,
Orlíková, Aneta
,
Burčková, Hana
,
Wiedermannová, Hana
,
Mašek, Petr
Published in
Ophthalmic genetics
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A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene: Hay-Wells syndrome - novel mutation on the TP63 g...
by
Koubek, Michal
,
Strakošová, Kristýna
,
Timkovič, Juraj
,
Grečmalová, Dagmar
,
Orlíková, Aneta
,
Burčková, Hana
,
Wiedermannová, Hana
,
Mašek, Petr
Published in
Ophthalmic Genetics
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