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1.
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Am J Med Genet A
; 176(11): 2430-2434, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30194816
2.
An ADP-ribosyltransferase 3 (ART3) variant is associated with reduced sperm counts in Czech males: case/control association study replicating results from the Japanese population.
Neuro Endocrinol Lett
; 33(1): 48-52, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22467112
3.
Patients with hypertrophic obstructive cardiomyopathy after alcohol septal ablation have favorable long-term outcome irrespective of their genetic background.
Cardiovasc Diagn Ther
; 10(2): 193-200, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32420099
4.
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Arch Med Sci
; 15(3): 641-649, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-31110529
5.
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Eur J Med Genet
; 61(6): 315-321, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29307790
6.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros
; 12(5): 532-7, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23276700
7.
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene.
Clin Biochem
; 42(12): 1308-16, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19427845
8.
An eleven amino acid residue deletion expands the substrate specificity of acetyl xylan esterase II (AXE II) from Penicillium purpurogenum.
J Comput Aided Mol Des
; 22(1): 19-28, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18060506
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