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1
المؤلفون: D. Šišková, Kathrin Hühne, L. Baránková, Pavel Seeman, E. Vyhnálková, M. Bojar, Iva Sakmaryová, Bernd Rautenstrauss
المصدر: European Journal of Neurology. 15:548-551
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Roma, medicine.disease_cause, Frameshift mutation, Charcot-Marie-Tooth Disease, medicine, Humans, Nucleotide, In patient, Genetic Testing, Age of Onset, Gene, Sequence Deletion, Genetic testing, Early onset, chemistry.chemical_classification, Genetics, Mutation, Base Sequence, medicine.diagnostic_test, business.industry, Infant, Membrane Proteins, Pedigree, nervous system diseases, Neurology, chemistry, Child, Preschool, Female, Neurology (clinical), Age of onset, business, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d985a7449ddaa15ccd303bdadab8ffbTest
https://doi.org/10.1111/j.1468-1331.2008.02104.xTest -
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المؤلفون: M. Bojar, E. Vyhnálková, Luciano Merlini, P. De Jonghe, Eva Nelis, L. Baránková, Radim Mazanec, Iva Sakmaryová, Petr Vondráček, Pavel Seeman, Stephan Züchner
المصدر: Neuromuscular disorders
مصطلحات موضوعية: Adult, Male, Adolescent, media_common.quotation_subject, Nonsense, Population, Mutation, Missense, Nerve Tissue Proteins, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Charcot-Marie-Tooth Disease, medicine, Humans, Point Mutation, Missense mutation, Age of Onset, Allele, Child, education, Allele frequency, Alleles, Genetics (clinical), Aged, Czech Republic, 030304 developmental biology, media_common, Genetics, 0303 health sciences, Mutation, education.field_of_study, Muscle Weakness, Haplotype, Middle Aged, 3. Good health, Electrophysiology, Haplotypes, Neurology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, Algorithms, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e493c694b7bd8fcf8946cb825e00aa7Test
https://doi.org/10.1016/j.nmd.2007.02.010Test -
3
المؤلفون: Radim Mazanec, Pavlína Plevová, Zdeněk Rychlý, Pavel Seeman, Jiří Böhm, Jana Lisoňová, Jana Sabová, Dana T. Brožková, Iva Sakmaryová, Jana Haberlová, Jan Staněk
المصدر: Muscle & Nerve. 44:819-821
مصطلحات موضوعية: Genetics, Cellular and Molecular Neuroscience, Mutation, Physiology, Physiology (medical), Point mutation, medicine, Neurology (clinical), Biology, medicine.disease_cause, Phenotype, Pmp22 gene, DEJERINE-SOTTAS NEUROPATHY
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::82bd812b22b9b8982a535f7cf447034cTest
https://doi.org/10.1002/mus.22189Test -
4
المؤلفون: Josef Zamecnik, Jim Garbern, Dana Šišková, Jana Haberlová, Ken Inoue, Pavel Seeman, Kateřina Paděrová, Radim Mazanec, Markéta Žaliová, Klára Sixtová, Petra Laššuthová, Iva Sakmaryová
المصدر: Journal of child neurology. 29(7)
مصطلحات موضوعية: Male, Proteolipid protein 1, Pelizaeus-Merzbacher Disease, DNA Mutational Analysis, Neural Conduction, Disease, Biology, medicine, Humans, Child, Myelin Proteolipid Protein, Gene, Genetics, Family Health, Pelizaeus–Merzbacher disease, Middle Aged, medicine.disease, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, RNA splicing, Mutation, Female, Neurology (clinical), Autopsy, RNA Splice Sites
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa30a3fff5c8b00d573dcab75eb696b9Test
https://pubmed.ncbi.nlm.nih.gov/23771846Test -
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المؤلفون: Dana, Brožková, Radim, Mazanec, Zdeněk, Rychlý, Jana, Haberlová, Jiří, Böhm, Jan, Staněk, Pavlína, Plevová, Jana, Lisoňová, Jana, Sabová, Iva, Sakmaryová, Pavel, Seeman
المصدر: Musclenerve. 44(5)
مصطلحات موضوعية: Adult, Arthrogryposis, Male, Young Adult, Phenotype, Charcot-Marie-Tooth Disease, Child, Preschool, Humans, Point Mutation, Female, Middle Aged, Hereditary Sensory and Motor Neuropathy, Myelin Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3e358695cd14824ef14e3dd9da34d1b9Test
https://pubmed.ncbi.nlm.nih.gov/22006697Test -
6
المؤلفون: Iva Sakmaryová, D Brožková, Jana Haberlová, Pavel Seeman, Radim Mazanec
المصدر: Clinical genetics. 78(1)
مصطلحات موضوعية: Adult, Male, Mutation rate, Adolescent, Genetic counseling, Biology, Bioinformatics, medicine.disease_cause, Young Adult, Polymorphism (computer science), Charcot-Marie-Tooth Disease, Genetics, medicine, Humans, Family, Child, Gene, Genetics (clinical), Genetic Association Studies, Aged, Mutation, Polymorphism, Genetic, Myelin protein zero, Middle Aged, medicine.disease, Phenotype, Electrophysiology, Child, Preschool, Female, Hereditary motor and sensory neuropathy, Hereditary Sensory and Motor Neuropathy, Myelin P0 Protein, Prejudice
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c161e90247d6901f51a7ce9e17c2bb48Test
https://pubmed.ncbi.nlm.nih.gov/20456450Test -
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المؤلفون: Ivan Subrt, Dana Safka Brozkova, Radim Mazanec, Iva Sakmaryová, Pavel Seeman, Jana Haberlová
المصدر: Genetic testing and molecular biomarkers. 14(1)
مصطلحات موضوعية: Adult, Male, Adolescent, Molecular Sequence Data, Mutation, Missense, Codon, Initiator, Biology, Gene mutation, medicine.disease_cause, Connexins, Young Adult, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Missense mutation, Humans, Amino Acid Sequence, education, Gene, Genetics (clinical), Aged, Czech Republic, Genetics, education.field_of_study, Mutation, Sequence Homology, Amino Acid, General Medicine, Middle Aged, medicine.disease, Molecular biology, Phenotype, Pedigree, Amino Acid Substitution, Case-Control Studies, Connexin 32, Female, Hereditary motor and sensory neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f45160a49d42b8ec875e230cdf66c6cTest
https://pubmed.ncbi.nlm.nih.gov/20039784Test -
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المؤلفون: Iva Tatarková, Iva Sakmaryová, Pavel Seeman, Emilie Mikesová, L. Baránková
المصدر: Genetic testing. 10(3)
مصطلحات موضوعية: Genetics, Male, Pelizaeus-Merzbacher Disease, Reverse Transcriptase Polymerase Chain Reaction, Intron, Membrane Proteins, Pilot Projects, Biology, Molecular biology, Exon, Real-time polymerase chain reaction, Gene Duplication, Multiplex polymerase chain reaction, Gene duplication, TaqMan, Humans, Multiplex, Female, Myelin Proteolipid Protein, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe887588bced2ce155a4aadee5e4f5eeTest
https://pubmed.ncbi.nlm.nih.gov/17020474Test -
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المؤلفون: Ales Filous, Petra Laššuthová, Iva Sakmaryová, Pavel Seeman, Jana Haberlová, Dana Šišková
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Czech, Male, Pediatrics, medicine.medical_specialty, Roma, Nervous system diseases/*genetics, Adolescent, medicine.medical_treatment, Population, Face/*abnormalities, Cataract, Cataract/congenital, Craniofacial Abnormalities, Facial dysmorphism, medicine, Humans, Genetics(clinical), Pharmacology (medical), education, Child, Genetics (clinical), Czech Republic, Medicine(all), education.field_of_study, High prevalence, Gypsies/genetics, business.industry, Molecular genetic testing, Research, Facial nerve diseases/*congenital/genetics, Infant, General Medicine, Cataract surgery, language.human_language, Child, Preschool, Demyelinating neuropathy, language, Microphthalmos, Female, Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b31ec9996a3b195c281a7e52e6c01ae3Test