Detalles de la búsqueda
1.
Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.
Klin Lab Diagn
; 67(4): 204-206, 2022 Apr 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35575392
2.
[Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia].
Vestn Ross Akad Med Nauk
; (7-8): 69-77, 2014.
Artículo
en Ruso
| MEDLINE | ID: mdl-25563006
3.
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Front Genet
; 15: 1331066, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38528911
4.
Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries.
Vavilovskii Zhurnal Genet Selektsii
; 27(1): 83-87, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36923477
5.
Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy.
Vavilovskii Zhurnal Genet Selektsii
; 27(1): 63-71, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36923475
6.
Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.
Stem Cell Res
; 49: 102076, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33212351
7.
Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism.
Stem Cell Res
; 49: 102024, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33070101
8.
Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene.
Stem Cell Res
; 40: 101556, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31518906
9.
Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability.
Stem Cell Res
; 41: 101591, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31678775
10.
Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication.
Stem Cell Res
; 34: 101377, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30616144
11.
Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting.
Am J Med Genet
; 87(3): 217-20, 1999 Nov 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-10564873
12.
Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.
Am J Med Genet
; 85(2): 179-82, 1999 Jul 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-10406673
13.
[Genetic processes in rural populations of the Tomsk region (migration characteristics)]. / Geneticheskie protsessy v sel'skikh populiatsiiakh Tomskoi oblasti (kharakteristika migratsii)
Genetika
; 27(6): 1084-94, 1991 Jun.
Artículo
en Ruso
| MEDLINE | ID: mdl-1837784
14.
[Intra-individual polymorphism of human Y chromosome as a result of deletion in the heterochromatin region]. / Vnutriindividual'nyi polimorfizm Y-khromosomy cheloveka kak sledstvie deletsii geterokhromatinovogo bloka.
Genetika
; 23(5): 918-21, 1987 May.
Artículo
en Ruso
| MEDLINE | ID: mdl-3623089
15.
[Multiaberrant cell formation caused by exposure to internal densely-ionizing irradiation]. / Mul'tiabberantnye kletki pri vnutrennem obluchenii istochnikami plotno-ionizuiushchego izlucheniia.
Genetika
; 40(12): 1709-13, 2004 Dec.
Artículo
en Ruso
| MEDLINE | ID: mdl-15648155
16.
[Dynamics of the marital structure with respect to the nationality and birthplace of spouses in a modern urbanized Siberian population (as exemplified by Tomsk)]. / Dinamika struktury brakov po natsional'nosti i mestam rozhdeniia suprugov v sovremennoi urbanizirovannoi sibirskoi populiatsii (na primere g. Tomska).
Genetika
; 34(9): 1293-7, 1998 Sep.
Artículo
en Ruso
| MEDLINE | ID: mdl-9879016
17.
[Prevalence of hereditary pathology in Altai Republic]. / Rasprostranennost' nasledsvennoi patologii u naseleniia respubliki Altai.
Genetika
; 40(10): 1417-24, 2004 Oct.
Artículo
en Ruso
| MEDLINE | ID: mdl-15575511
18.
[A complex medico-genetic study of West Siberian populations. I. Formulation of a problem. Goals and objectives of the study. Population genetic characteristics of Northern Khanty]. / Kompleksnoe mediko-geneticheskoe izuchenie naseleniia Zapadnoi Sibiri. Soobshchenie I. Postanovka problemy. Tseli i zadachi issledovaniia. Populiatsionno-geneticheskaia kharakteristika severnykh khantov.
Genetika
; 23(2): 355-63, 1987 Feb.
Artículo
en Ruso
| MEDLINE | ID: mdl-3557120
19.
[Genetic-demographic characteristics of farming regions and small cities of the Tomsk district]. / Genetiko-demograficheskaia kharakteristika sel'skikh raionov i malykh gorodov Tomskoi oblasti.
Genetika
; 33(7): 1005-11, 1997 Jul.
Artículo
en Ruso
| MEDLINE | ID: mdl-9378279
20.
[A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population]. / Poisk mutatsii v gene DIA1 pri nasledstvennoi metgemoglobinemii I tipa v iakutskoi populiatsii.
Genetika
; 39(6): 858-62, 2003 Jun.
Artículo
en Ruso
| MEDLINE | ID: mdl-12884529