Detalhe da pesquisa
1.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
J Clin Immunol
; 44(4): 93, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578360
2.
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Int J Mol Sci
; 25(9)2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38731816
3.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
4.
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.
Int J Mol Sci
; 24(22)2023 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003421
5.
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Int J Mol Sci
; 24(7)2023 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047318
6.
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].
Curr Issues Mol Biol
; 44(10): 5126-5138, 2022 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36286063
7.
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Int J Mol Sci
; 23(24)2022 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555390
8.
Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.
Int J Mol Sci
; 23(18)2022 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142302
9.
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Int J Mol Sci
; 21(1)2020 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31947737
10.
Enhanced luminescence of CsPbBr3 perovskite nanocrystals on stretchable templates with Au/SiO2 plasmonic nanoparticles.
Opt Lett
; 43(10): 2352-2355, 2018 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29762590
11.
Gold Decoration and Photoresistive Response to Nitrogen Dioxide of WS2 Nanotubes.
Chemistry
; 24(71): 18952-18962, 2018 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238511
12.
Strong light-matter interaction in tungsten disulfide nanotubes.
Phys Chem Chem Phys
; 20(32): 20812-20820, 2018 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30004095
13.
Silver Eco-Solvent Ink for Reactive Printing of Polychromatic SERS and SPR Substrates.
Sensors (Basel)
; 18(2)2018 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29425119
14.
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
J Hum Genet
; 62(8): 789-795, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28405014
15.
Device performance of inverted polymer solar cells with AgSiO(2) nanoparticles in active layer.
Opt Express
; 23(7): A211-8, 2015 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25968787
16.
Prognostic significance of steroid receptor positivity and adjuvant progestogen use in endometrial stromal sarcoma.
Aust N Z J Obstet Gynaecol
; 54(5): 453-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25287561
17.
Quantum trapping and rotational self-alignment in triangular Casimir microcavities.
Sci Adv
; 10(17): eadn1825, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38657070
18.
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Pediatr Neurol
; 156: 147-154, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38781723
19.
Which women develop urgency or urgency urinary incontinence following midurethral slings?
Int Urogynecol J
; 24(1): 47-54, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722646
20.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet
; 36(6): 602-6, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15122254