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Prchalová, Darina
50  results:
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1

Expanded phenotypic spectrum of neurodevelopmental and neur..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Correction: Expanded phenotypic spectrum of neurodevelopmen..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

A new patient with congenital myasthenic syndrome type 20 d..:

Vlckova, Marketa ; Prchalova, Darina ; Zimmermann, Pavel...
Molecular Genetics & Genomic Medicine.  11 (2023)  6 - p. , 2023
Link: https://doi.org/10.1002/..
 
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4

Expansion of the fatty acyl reductase gene family shaped ph..:

Tupec, Michal ; Buček, Aleš ; Janoušek, Václav...
eLife.  8 (2019)  - p. , 2019
Link: https://doi.org/10.7554/..
 
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5

Teaching a difficult topic using a problem-based concept re..:

Prochazkova, Kamila ; Novotny, Petr ; Hancarova, Miroslava..
BMC Medical Education.  19 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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6

A novel variant of C12orf4 in a consanguineous Armenian fam..:

Hancarova, Miroslava ; Babikyan, Davit ; Bendova, Sarka...
Molecular Genetics & Genomic Medicine.  7 (2019)  9 - p. , 2019
Link: https://doi.org/10.1002/..
 
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7

Parental gonadal but not somatic mosaicism leading to de no..:

Hancarova, Miroslava ; Havlovicova, Marketa ; Putzova, Martina...
American Journal of Medical Genetics Part A.  179 (2019)  10 - p. 2119-2123 , 2019
Link: https://doi.org/10.1002/..
 
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8

De novo mutations in the GTP/GDP-binding region of RALA, a ..:

Hiatt, Susan M. ; Neu, Matthew B. ; Ramaker, Ryne C....
PLOS Genetics.  14 (2018)  11 - p. e1007671 , 2018
Link: https://doi.org/10.1371/..
 
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9

Analysis of 31-year-old patient with SYNGAP1 gene defect po..:

Prchalova, Darina ; Havlovicova, Marketa ; Sterbova, Katalin...
BMC Medical Genetics.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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10

Dominant variants in the splicing factor PUF60 cause a reco..:

El Chehadeh, Salima ; Kerstjens-Frederikse, Wilhelmina S ; Thevenon, Julien...
European Journal of Human Genetics.  25 (2016)  1 - p. 43-51 , 2016
Link: https://doi.org/10.1038/..
 
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11

Biomarkers of Brain Damage: S100B and NSE Concentrations in..:

Hajduková, Lenka ; Sobek, Ondřej ; Prchalová, Darina...
BioMed Research International.  2015 (2015)  - p. 1-7 , 2015
Link: https://doi.org/10.1155/..
 
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12

Regulation of Isoprenoid Pheromone Biosynthesis in Bumblebe..:

Prchalová, Darina ; Buček, Aleš ; Brabcová, Jana...
ChemBioChem.  17 (2015)  3 - p. 260-267 , 2015
Link: https://doi.org/10.1002/..
 
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13

Hypophosphatasia due to uniparental disomy:

Hancarova, Miroslava ; Krepelova, Anna ; Puchmajerova, Alena...
Bone.  81 (2015)  - p. 765-766 , 2015
Link: https://doi.org/10.1016/..
 
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14

Characterization of Neutral Lipase BT-1 Isolated from the L..:

Brabcová, Jana ; Prchalová, Darina ; Demianová, Zuzana...
PLoS ONE.  8 (2013)  11 - p. e80066 , 2013
Link: https://doi.org/10.1371/..
 
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15

The role of desaturases in the biosynthesis of marking pher..:

Buček, Aleš ; Vogel, Heiko ; Matoušková, Petra...
Insect Biochemistry and Molecular Biology.  43 (2013)  8 - p. 724-731 , 2013
Link: https://doi.org/10.1016/..
 
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