Detalhe da pesquisa
1.
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
BMC Med Genet
; 20(1): 44, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898088
2.
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Clin Genet
; 90(3): 230-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841933
3.
[Hepatoblastoma, Etiology, Case Reports]. / Hepatoblastom, etiologie, kazuistiky.
Klin Onkol
; 29 Suppl 1: S78-82, 2016.
Artigo
em Tcheco
| MEDLINE | ID: mdl-26691946
4.
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Nat Genet
; 7(2): 169-75, 1994 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7920636
5.
A mutation in CFTR produces different phenotypes depending on chromosomal background.
Nat Genet
; 5(3): 274-8, 1993 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-7506096
6.
Entropy in scalp EEG can be used as a preimplantation marker for VNS efficacy.
Sci Rep
; 13(1): 18849, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37914788
7.
Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management.
Eur J Paediatr Dent
; 23(2): 140-146, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722846
8.
A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts.
Int J Androl
; 33(1): e240-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19863670
9.
Recommendations of the ISBT Working Party on Granulocyte Immunobiology for leucocyte antibody screening in the investigation and prevention of antibody-mediated transfusion-related acute lung injury.
Vox Sang
; 96(3): 266-9, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19207164
10.
Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene.
Folia Biol (Praha)
; 55(6): 238-42, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20163773
11.
[Direct-to-consumer genetic testing also in our country]. / Genetické testování zpusobem DTC i v nasich krajích.
Cas Lek Cesk
; 148(2): 56-8, 2009.
Artigo
em Tcheco
| MEDLINE | ID: mdl-19637438
12.
Elusive transition to the ultimate regime of turbulent Rayleigh-Bénard convection.
Phys Rev E
; 99(1-1): 011101, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30780350
13.
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
J Cyst Fibros
; 7(3): 179-96, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18456578
14.
Pregnancy-associated plasma protein A and proform eosinophilic major basic protein in the detection of different types of coronary artery disease.
Physiol Res
; 57(1): 23-32, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17223728
15.
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Nat Genet
; 22(2): 128-9, 1999 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10369249
16.
[Acute monocular loss of vision : Differential diagnostic considerations apart from the internistic etiological clarification]. / Akuter monokularer Visusverlust : Differenzialdiagnostische Überlegung abseits der internistisch-ätiologischen Abklärung.
Ophthalmologe
; 115(8): 676-679, 2018 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-28776160
17.
Oral Health Literacy, Preventive Behavior Measures, and Chronic Medical Conditions.
JDR Clin Trans Res
; 3(3): 288-301, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30938606
18.
The polymorphic insertion of the luteinizing hormone receptor "insLQ" show a negative association to LHR gene expression and to the follicular fluid hormonal profile in human small antral follicles.
Mol Cell Endocrinol
; 460: 57-62, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28684292
19.
Recent developments in genetics and medically assisted reproduction: from research to clinical applications.
Eur J Hum Genet
; 26(1): 12-33, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29199274
20.
Highly preferential association of NonF508del CF mutations with the M470 allele.
J Cyst Fibros
; 6(1): 15-22, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16784904