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A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
by
Straka, Barbora
,
Koblížek, Miroslav
,
Splítková, Barbora
,
Valkovičová, Radka
,
Krsková, Lenka
,
Kalinová, Markéta
,
Vlčková, Markéta
,
Zámečník, Josef
,
Laššuthová, Petra
,
Sedláčková, Lucie
,
Staněk, David
,
Maulisová, Alice
,
Tichý, Michal
,
Kynčl, Martin
,
Kršek, Pavel
Published in
Epilepsia open
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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
by
Zunova, Hana
,
Stolfa, Miroslav
,
Kunikova, Tereza
,
Novotna, Drahuse
,
Valkovicova, Radka
,
Štěrbová, Katalin
,
Vlckova, Marketa
Published in
American journal of medical genetics. Part A
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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation
by
Zunova, Hana
,
Stolfa, Miroslav
,
Kunikova, Tereza
,
Novotna, Drahuse
,
Valkovicova, Radka
,
Štěrbová, Katalin
,
Vlckova, Marketa
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Epilepsia Open
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Epilepsy
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Life Sciences & Biomedicine
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Science & Technology
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17Q12 Deletion
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17Q12 Duplication
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Abnormalities, Multiple - Genetics
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Amino Acids
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Biopsy
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Chicken Pox
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Chromosome 17
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Chromosome Deletion
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Chromosome Duplication - Genetics
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Convulsions & Seizures
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Czech Republic
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