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Orphanet Journal of Rare Diseases
|
April 3, 2014
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies
Petra Lassuthova, Dana Sišková, Jana Haberlová, et al.
Database : the Journal of Biological Databases and Curation
|
April 16, 2020
Prot2HG: a database of protein domains mapped to the human genome
David Stanek, Dana M Bis-Brewer, Cima Saghira, et al.
European Journal of Medical Genetics
|
November 2, 2025
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
Barbora Lauerova, Radim Mazanec, Katja Eggerman, et al.
Human Genomics
|
February 26, 2026
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis
Dana Safka Brozkova, Jaroslava Paulasova Schwabova, Emilie Vyhnalkova, et al.
Gene
|
March 4, 2024
Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
Aishwarya Iyer, Barbora Lauerova, Jennifer Mariano, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 26, 2023
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, et al.
Neurology. Genetics
|
June 30, 2025
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease
Alena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, et al.
Neuromuscular Disorders : NMD
|
May 6, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness
Barbora Lauerova, Anezka Dolanska, Petra Lassuthova, et al.
Neurology. Genetics
|
November 3, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study
Barbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
Genes
|
June 2, 2021
The Cause of Hereditary Hearing Loss in <i>GJB2</i> Heterozygotes-A Comprehensive Study of the <i>GJB2</i>/DFNB1 Region
Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
Orphanet Journal of Rare Diseases
|
April 3, 2014
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies
Petra Lassuthova, Dana Sišková, Jana Haberlová, et al.
Database : the Journal of Biological Databases and Curation
|
April 16, 2020
Prot2HG: a database of protein domains mapped to the human genome
David Stanek, Dana M Bis-Brewer, Cima Saghira, et al.
European Journal of Medical Genetics
|
November 2, 2025
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
Barbora Lauerova, Radim Mazanec, Katja Eggerman, et al.
Human Genomics
|
February 26, 2026
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis
Dana Safka Brozkova, Jaroslava Paulasova Schwabova, Emilie Vyhnalkova, et al.
Gene
|
March 4, 2024
Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations
Aishwarya Iyer, Barbora Lauerova, Jennifer Mariano, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 26, 2023
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, et al.
Neurology. Genetics
|
June 30, 2025
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease
Alena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, et al.
Neuromuscular Disorders : NMD
|
May 6, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness
Barbora Lauerova, Anezka Dolanska, Petra Lassuthova, et al.
Neurology. Genetics
|
November 3, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study
Barbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
Genes
|
June 2, 2021
The Cause of Hereditary Hearing Loss in <i>GJB2</i> Heterozygotes-A Comprehensive Study of the <i>GJB2</i>/DFNB1 Region
Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, et al.
Page
of 2