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1.
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
Clin Genet
; 94(5): 467-472, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30028002
2.
In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Neurogenetics
; 23(1): 67-68, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34837145
3.
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
Neurogenetics
; 16(1): 43-54, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25342199
4.
Monitoring of methylation changes in 9p21 region in patients with myelodysplastic syndromes and acute myeloid leukemia.
Neoplasma
; 59(2): 168-74, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22248274
5.
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report.
Clin Genet
; 89(4): 512-514, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26302975
6.
High frequency of SH3TC2 mutations in Czech HMSN I patients.
Clin Genet
; 80(4): 334-45, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21291453
7.
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Sci Rep
; 11(1): 8443, 2021 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33875678
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