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Laššuthová, Petra
86  results:
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1

Compound heterozygous variants in MYBPC1 lead to severe dis..:

Iyer, Aishwarya ; Lauerova, Barbora ; Mariano, Jennifer...
Gene.  910 (2024)  - p. 148339 , 2024
Link: https://doi.org/10.1016/..
 
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2

Yield of exome sequencing in patients with developmental an..:

Sedlackova, Lucie ; Sterbova, Katalin ; Vlckova, Marketa...
European Journal of Paediatric Neurology.  48 (2024)  - p. 17-29 , 2024
Link: https://doi.org/10.1016/..
 
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3

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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4

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
Brain.  146 (2023)  12 - p. 4880-4890 , 2023
Link: https://doi.org/10.1093/..
 
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5

A 5‐year‐old boy with super‐refractory status epilepticus a..:

Straka, Barbora ; Koblížek, Miroslav ; Splítková, Barbora...
Epilepsia Open.  9 (2023)  1 - p. 424-431 , 2023
Link: https://doi.org/10.1002/..
 
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6

Genetic pain loss disorders:

Lischka, Annette ; Lassuthova, Petra ; Çakar, Arman...
Nature Reviews Disease Primers.  8 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

A novel variant in YWHAG further supports phenotype of deve..:

Sedláčková, Lucie ; Štěrbová, Katalin ; Vlčková, Markéta..
American Journal of Medical Genetics Part A.  185 (2021)  5 - p. 1363-1365 , 2021
Link: https://doi.org/10.1002/..
 
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8

Novel variants in the NARS2 gene as a cause of infantile-on..:

Štěrbová, K. ; Vlčková, M. ; Hansíková, H....
neurogenetics.  22 (2021)  4 - p. 359-364 , 2021
Link: https://doi.org/10.1007/..
 
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9

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—..:

Safka Brozkova, Dana ; Uhrova Meszarosova, Anna ; Lassuthova, Petra...
Genes.  12 (2021)  5 - p. 684 , 2021
Link: https://doi.org/10.3390/..
 
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10

Genotype-phenotype correlations in SCN8A-related disorders ..:

Johannesen, Katrine M ; Liu, Yuanyuan ; Koko, Mahmoud...
Brain.  145 (2021)  9 - p. 2991-3009 , 2021
Link: https://doi.org/10.1093/..
 
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11

Severe neurodevelopmental disorder with intractable seizure..:

Sedláčková, Lucie ; Laššuthová, Petra ; Štěrbová, Katalin...
European Journal of Medical Genetics.  64 (2021)  9 - p. 104263 , 2021
Link: https://doi.org/10.1016/..
 
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12

The genetic landscape of axonal neuropathies in the middle-..:

Senderek, Jan ; Lassuthova, Petra ; Kabzińska, Dagmara...
Neurology.  95 (2020)  24 - p. , 2020
Link: https://doi.org/10.1212/..
 
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13

Novel variant in the KCNK9 gene in a girl with Birk Barel s..:

Šedivá, Marie ; Laššuthová, Petra ; Zámečník, Josef...
European Journal of Medical Genetics.  63 (2020)  1 - p. 103619 , 2020
Link: https://doi.org/10.1016/..
 
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14

Prot2HG: a database of protein domains mapped to the human ..:

Zuchner, Stephan ; Lassuthova, Petra ; Seeman, Pavel...
Database.  2020 (2020)  - p. , 2020
Link: https://doi.org/10.1093/..
 
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15

Clinical features and blood iron metabolism markers in chil..:

Belohlavkova, Anezka ; Sterbova, Katalin ; Betzler, Cornelia...
European Journal of Paediatric Neurology.  28 (2020)  - p. 81-88 , 2020
Link: https://doi.org/10.1016/..
 
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