Search the collection

15 results for Vlckova,+Marketa

Sort by:

Sort by

Limit results to:

20 per page

15 results for Vlckova,+Marketa

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series
Author / Creator:Zhu, Gaofeng ; Didry-Barca, Blaise ; Seabra, Luis ; Rice, Gillian I ; Uggenti, Carolina ; Touimy, Moncef ; Rodero, Mathieu P ; Trapero, Rolando Hernandez ; Bondet, Vincent ; Duffy, Darragh ; Gautier, Philippe ; Livingstone, Katie ; Sutherland, Fraser J H ; Lebon, Pierre ; Parisot, Mélanie ; Bole-Feysot, Christine ; Masson, Cécile ; Cagnard, Nicolas ; Nitschké, Patrick ; Anderson, Glenn ; Assmann, Birgit ; Barth, Magalie ; Boespflug-Tanguy, Odile ; D’Arco, Felice ; Dorboz, Imen ; Giese, Thomas ; Hacohen, Yael ; Hancarova, Miroslava ; Husson, Marie ; Lepine, Anne ; Lim, Ming ; Mancardi, Maria Margherita ; Melki, Isabelle ; Neubauer, David ; Sa, Mario ; Sedlacek, Zdenek ; Seitz, Angelika ; Rottman, Mika Shapiro ; Sanquer, Sylvia ; Straussberg, Rachel ; Vlčková, Markéta ; Villéga, Frédéric ; Wagner, Matias ; Zerem, Ayelet ; Marsh, Joseph A ; Frémond, Marie-Louise ; Kaliakatsos, Marios ; Crow, Yanick J ; El-Daher, Marie-Thérèse ; Lepelley, Alice
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2025-03, Vol.24 (3), p.218-229
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Technological relatedness, knowledge space and smart specialisation: The case of Germany
Author / Creator:Vlčková, Jana ; Kaspříková, Nikola ; Vlčková, Markéta
Publisher:Brno: Sciendo
Journal title:Moravian geographical reports, 2018-06, Vol.26 (2), p.95-108
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome
Author / Creator:Sumerauer, David ; Krskova, Lenka ; Vicha, Ales ; Misove, Adela ; Mamatjan, Yasin ; Jencova, Pavla ; Vlckova, Marketa ; Slamova, Lucie ; Vanova, Katerina ; Liby, Petr ; Taborsky, Jakub ; Koblizek, Miroslav ; Klubal, Radek ; Kyncl, Martin ; Zadeh, Gelareh ; Stary, Jan ; Zamecnik, Josef ; Ramaswamy, Vijay ; Zapotocky, Michal
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2020-04, Vol.139 (4), p.795-797
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation
Author / Creator:Vlckova, Marketa ; Prchalova, Darina ; Zimmermann, Pavel ; Haberlova, Jana ; Bendova, Sarka ; Moslerova, Veronika ; Stranecky, Viktor ; Sedlacek, Zdenek ; Hancarova, Miroslava
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2154-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature
Author / Creator:Tesner, Pavel ; Drabova, Jana ; Stolfa, Miroslav ; Kudr, Martin ; Kyncl, Martin ; Moslerova, Veronika ; Novotna, Drahuse ; Kremlikova Pourova, Radka ; Kocarek, Eduard ; Rasplickova, Tereza ; Sedlacek, Zdenek ; Vlckova, Marketa
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2018-05, Vol.11 (1), p.29-7, Article 29
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
Author / Creator:Basak, Anindita ; Hancarova, Miroslava ; Ulirsch, Jacob C. ; Balci, Tugce B. ; Trkova, Marie ; Pelisek, Michal ; Vlckova, Marketa ; Muzikova, Katerina ; Cermak, Jaroslav ; Trka, Jan ; Dyment, David A. ; Orkin, Stuart H. ; Daly, Mark J. ; Sedlacek, Zdenek ; Sankaran, Vijay G.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2363-2368
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
Author / Creator:Vlckova, Marketa ; Hancarova, Miroslava ; Drabova, Jana ; Slamova, Zuzana ; Koudova, Monika ; Alanova, Renata ; Mannik, Katrin ; Kurg, Ants ; Sedlacek, Zdenek
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Twin research and human genetics, 2014-10, Vol.17 (5), p.405-410
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
Author / Creator:Staněk, David ; Laššuthová, Petra ; Štěrbová, Katalin ; Vlčková, Markéta ; Neupauerová, Jana ; Krůtová, Marcela ; Seeman, Pavel
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.71-8, Article 71
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
Author / Creator:Straka, Barbora ; Vlčková, Markéta ; Libá, Zuzana ; Heřmanovská, Barbora ; Kynčl, Martin ; Dorňáková, Jana ; Táborský, Jakub ; Kršek, Pavel ; Musilová, Alena ; Janota, Jan ; Balaščaková, Miroslava
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2023-03, Vol.8 (1), p.211-216
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis
Author / Creator:Geryk, Jan ; Krsička, Daniel ; Vlčková, Markéta ; Havlovicová, Markéta ; Macek, Milan ; Kremlíková Pourová, Radka
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2020-05, Vol.10 (5), p.184
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy
Author / Creator: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
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2024-02, Vol.9 (1), p.424-431
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Autoinflammatory encephalopathy due to PTP1B haploinsufficiency: a case series
Author / Creator:Zhu, Gaofeng ; Didry-Barca, Blaise ; Seabra, Luis ; Rice, Gillian I ; Uggenti, Carolina ; Touimy, Moncef ; Rodero, Mathieu P ; Trapero, Rolando Hernandez ; Bondet, Vincent ; Duffy, Darragh ; Gautier, Philippe ; Livingstone, Katie ; Sutherland, Fraser JH ; Lebon, Pierre ; Parisot, Mélanie ; Bole-Feysot, Christine ; Masson, Cécile ; Cagnard, Nicolas ; Nitschké, Patrick ; Anderson, Glenn ; Assmann, Birgit ; Barth, Magalie ; Boespflug-Tanguy, Odile ; D’Arco, Felice ; Dorboz, Imen ; Giese, Thomas ; Hacohen, Yael ; Hancarova, Miroslava ; Husson, Marie ; Lepine, Anne ; Lim, Ming ; Mancardi, Maria Margherita ; Melki, Isabelle ; Neubauer, David ; Sa, Mario ; Sedlacek, Zdenek ; Seitz, Angelika ; Rottman, Mika Shapiro ; Sanquer, Sylvia ; Straussberg, Rachel ; Vlčková, Markéta ; Villéga, Frédéric ; Wagner, Matias ; Zerem, Ayelet ; Marsh, Joseph A ; Marie-Louise, Frémond ; Kaliakatsos, Marios ; Crow, Yanick J ; El-Daher, Marie-Thérèse ; Lepelley, Alice
Journal title:Lancet neurology, 2025-03, Vol.24 (3), p.218-229
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
Author / Creator:Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna ; Ruiz, Nathalie ; Jamra, Rami Abou ; Afenjar, Alexandra ; Alembik, Yves ; Alessandri, Jean‐Luc ; Arpin, Stéphanie ; Barcia, Giulia ; Bendová, Šárka ; Bruel, Ange‐Line ; Charles, Perrine ; Chatron, Nicolas ; Chopra, Maya ; Conrad, Solène ; Daire, Valérie Cormier ; Cospain, Auriane ; Coubes, Christine ; Coursimault, Juliette ; Delahaye‐Duriez, Andrée ; Doco, Martine ; Dufour, William ; Durand, Benjamin ; Engel, Camille ; Faivre, Laurence ; Ferroul, Fanny ; Fradin, Mélanie ; Frenkiel, Hélène ; Fusco, Carlo ; Garavelli, Livia ; Garde, Aurore ; Gerard, Bénédicte ; Germanaud, David ; Goujon, Louise ; Gouronc, Aurélie ; Ginglinger, Emmanuelle ; Goldenberg, Alice ; Hancarova, Miroslava ; Havlovicová, Markéta ; Heron, Delphine ; Isidor, Bertrand ; Marçais, Nolwenn Jean ; Keren, Boris ; Koch‐Hogrebe, Margarete ; Kuentz, Paul ; Lamure, Victoria ; Lebre, Anne‐Sophie ; Lecoquierre, François ; Lehman, Natacha ; Lesca, Gaetan ; Lyonnet, Stanislas ; Martin, Delphine ; Mignot, Cyril ; Neuhann, Teresa M. ; Nicolas, Gaël ; Nizon, Mathilde ; Petit, Florence ; Philippe, Christophe ; Piton, Amélie ; Pollazzon, Marzia ; Prchalová, Darina ; Putoux, Audrey ; Rio, Marlène ; Rondeau, Sophie ; Rossi, Massimiliano ; Sabbagh, Quentin ; Saugier‐Veber, Pascale ; Schmetz, Ariane ; Steffann, Julie ; Thauvin‐Robinet, Christel ; Toutain, Annick ; Them, Frederic Tran Mau ; Trimarchi, Gabriele ; Vincent, Marie ; Vlčková, Markéta ; Wieczorek, Dagmar ; Willems, Marjolaine ; Yauy, Kevin ; Zelinová, Michaela ; Ziegler, Alban ; Chaumette, Boris ; Sadikovic, Bekim ; Mandel, Jean‐Louis ; Geneviève, David
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2363-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ReviewsPeer ReviewedFull Text
Cesty božstev. Otázky interpretace náboženství a nacionalismu v moderním Japonsku
Author / Creator:Vlčková, Markéta
Publisher:Prague: Institute of Sociology, Academy of Sciences of the Czech Republic
Journal title:Sociologický časopis, 2014, Vol.50 (1), p.141-144
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Author / Creator:Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L. ; Niestroj, Lisa-Marie ; Parthasarathy, Shridhar ; Xian, Julie ; Ganesan, Shiva ; Macnee, Marie ; Brünger, Tobias ; Thomas, Rhys H. ; Talkowski, Michael ; Helbig, Ingo ; Leu, Costin ; Lal, Dennis
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-07, Vol.14 (1), p.4392-19, Article 4392
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

Export this record

Export record to excel

Technological relatedness, knowledge space and smart specialisation: The case of Germany

Export this record

Export record to excel

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Export this record

Export record to excel

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

Export this record

Export record to excel

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

Export this record

Export record to excel

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Export this record

Export record to excel

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Export this record

Export record to excel

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Export this record

Export record to excel

COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

Export this record

Export record to excel

The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis

Export this record

Export record to excel

A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy

Export this record

Export record to excel

Autoinflammatory encephalopathy due to PTP1B haploinsufficiency: a case series

Export this record

Export record to excel

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

Export this record

Export record to excel

Cesty božstev. Otázky interpretace náboženství a nacionalismu v moderním Japonsku

Export this record

Export record to excel

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Refine your search