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Случаи фармакорезистентной эпилепсии при хромосомной патологии
Drug-resistant epilepsy cases in chromosomal pathology
Novikova, L.B., Akopyan, A.P., Latypova, R.F., Faizullina, N.M., Л.Б. Новикова, А.П. Акопян, Р.Ф. Латыпова, Н.М. Файзуллина (2024)
mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested
«СОЛНЕЧНЫЕ» ЛЮДИ: СОЦИАЛИЗАЦИЯ
"SUNNY" PEOPLE: SOCIALIZATION
Габдуллина, М.И., Gabdullina, M.I. (2024)
ПРЕДИКЦИЯ ХРОМОСОМНЫХ ЗАБОЛЕВАНИЙ ПЛОДА С ПОМОЩЬЮ ТАРГЕТНОГО ГИСТОЛОГИЧЕСКОГО ОБСЛЕДОВАНИЯ ПРОМЕЖУТОЧНЫХ ВОРСИН ХОРИОНА
PREDICTION OF FETAL CHROMOSOMAL DISEASES BY MEANS OF TARGETED HISTOLOGIC EXAMINATION OF INTERMEDIATE CHORIONIC VILLI
ЛАПТЕВ, Н.Е., ЛАПТЕВА, А.В., LAPTEV, N.E., LAPTEVA, A.V. (2024)
PREDICTION OF FETAL CHROMOSOMAL DISEASES BY MEANS OF TARGETED HISTOLOGIC EXAMINATION
СЕКВЕНИРОВАНИЕ ДНК И ИССЛЕДОВАНИЯ В ОБЛАСТИ ГЕНОМИКИ
DNA SEQUENCING AND GENOMICS RESEARH
Иванова, К.Ю., Плотников, Д.Н., Пономарева, М.А., Ivanova, K.U., Plotnikov, D.N., Ponomareva, M.A. (2024)
chromosome
Novel Genetic Risk Marker for Paranoid Schizophrenia in the Chromosomal Region 9q21.13 in Tatars: A Genome-Wide Association Analysis
Gareeva, A.E. (2024)
Novel Genetic Risk Marker for Paranoid Schizophrenia in the Chromosomal Region 9q21.13 in Tatars: A
Genome-Wide Analysis of the Risk Association for the Development of Paranoid Schizophrenia in Russians: Search for Genetic Markers in the 1q43 Chromosomal Region
Gareeva, A.E. (2024)
in Russians: Search for Genetic Markers in the 1q43 Chromosomal Region
Достижения последних лет в пренатальной генетической диагностике малых сверхчисленных маркерных хромосом
Recent achievements in prenatal genetic diagnosis of small supernumerary marker chromosomes
Omarov, Magomed A., Mulyukov, Airat R., Burmistrov, Ivan A., Akhmadishin, Eduard I., Lapteva, Mariia S., Nizamutdinova, Adelina N., Nurieva, Kadria Z., Iagudina, Regina A., Kurbanadamov, Magomedali R., Омаров, М.А., Мулюков, А.Р., Бурмистров, И.А., Ахмадишин, Э.И., Лаптева, М.С., Низамутдинова, А.Н., Нуриева, К.З., Ягудина, Р.А., Курбанадамов, М.Р. (2024)
Recent achievements in prenatal genetic diagnosis of small supernumerary marker chromosomes
Rare Variants of the SMN1 Gene Detected during Neonatal Screening
Akhkiamova, Maria, Polyakov, Aleksander, Marakhonov, Andrey, Voronin, Sergey, Saifullina, Elena, Vafina, Zulfiia, Michalchuk, Kristina, Braslavskaya, Svetlana, Chukhrova, Alena, Ryadninskaya, Nina, Kutsev, Sergey, Shchagina, Olga (2024)
with a deletion of exons 7–8 of the SMN1 gene, one newborn with two copies of the SMN1 gene had the same
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Marakhonov, Andrey V., Efimova, Irina Yu, Mukhina, Anna A., Zinchenko, Rena A., Balinova, Natalya V., Rodina, Yulia, Pershin, Dmitry., Ryzhkova, Oxana P., Orlova, Anna A., Zabnenkova, Viktoriia V., Cherevatova, Tatiana B., Beskorovainaya, Tatiana S., Shchagina, Olga A., Polyakov, Alexander V., Markova, Zhanna G., Minzhenkova, Marina E., Shilova, Nadezhda V., Larin, Sergey S., Khadzhieva, Maryam B., Dudina, Ekaterina S., Kalinina, Ekaterina V., Mudaeva, Dzhaina A., Saydaeva, Djamila H., Matulevich, Svetlana A., Belyashova, Elena Yu ., Yakubovskiy, Grigoriy I., Tebieva, Inna S., Gabisova, Yulia V., Irinina, Nataliya A., Nurgalieva, Liya R., Saifullina, Elena V., Belyaeva, Tatiana I., Romanova, Olga S., Voronin, Sergey V., Shcherbina, Anna, Kutsev, Sergey I. (2024)
groups of newborns report results of NBS that also include measurement of kappa-deleting recombination
УЧАСТИЕ РЕТРОЭЛЕМЕНТОВ В ХРОМОАНАГЕНЕЗЕ ПРИ РАЗВИТИИ ЗЛОКАЧЕСТВЕННЫХ НОВООБРАЗОВАНИЙ
PARTICIPATION OF RETROELEMENTS IN CHROMOANAGENESIS IN CANCER DEVELOPMENT
Mustafin, Rustam.N., Мустафин, Р.Н. (2024)
complex chromosomal rearrangements

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