Zobrazeno 1 - 10
of 132
pro vyhledávání: '"microdeletion syndromes"'
Autor:
Hong-Lei Duan, Jie Li, Wan-Jun Wang, David S. Cram, Wei Liu, Pei-Xuan Cao, Xiang-Yu Zhu, Ya-Li Hu
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods: This was a retrospective study on 29 pregn
Externí odkaz:
https://doaj.org/article/1e44f1a8164f4de582d0dd4789bb9971
Akademický článek
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Autor:
Rita Singh
Publikováno v:
Entropy, Vol 25, Iss 6, p 897 (2023)
Over the past decades, many machine-learning- and artificial-intelligence-based technologies have been created to deduce biometric or bio-relevant parameters of speakers from their voice. These voice profiling technologies have targeted a wide range
Externí odkaz:
https://doaj.org/article/6f79d1b3ab1045eba31e0bc81f002cf6
Autor:
Fahrettin Duymuş, Fuat Buğrul
Publikováno v:
Journal of Contemporary Medicine, Vol 9, Iss 3, Pp 301-304 (2019)
Williams-Beuren sendromu (WBS) 7. kromozomun uzun kolunun 11.23 bölgesinin mikrodelesyonu sonucu oluşan 1/ 20.000 sıklığında görülen nadir bir hastalıktır. Karakteristik yüz özelliklerine zihinsel yetersizlik, konjenital kalp anomalileri
Externí odkaz:
https://doaj.org/article/f6d25fe7fe764512abecbae028b361af
Autor:
Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee, Doyeong Hwang
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is inefficient for detecting the
Externí odkaz:
https://doaj.org/article/10802143ad2147a2963d44d5f6b3d068
Autor:
Singh, Rita
Publikováno v:
Entropy; Volume 25; Issue 6; Pages: 897
Over the past decades, many machine-learning- and artificial-intelligence-based technologies have been created to deduce biometric or bio-relevant parameters of speakers from their voice. These voice profiling technologies have targeted a wide range
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::a43dabcf93549a302e022d882bbe6ab5
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
Objective To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods This was a retrospective study on 29 pregnan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3683b7c884ae465e0188363ac39e309c
https://doi.org/10.1016/j.tjog.2021.09.018
https://doi.org/10.1016/j.tjog.2021.09.018
Autor:
Lipošćak, Katja
Delecije i duplikacije najčešće su strukturne varijacije genoma čovjeka te se zajedno nazivaju varijacije broja kopija (engl. copy number variation, CNV). CNV se definira kao dodatak ili gubitak dijela DNK u usporedbi s referentnim humanim genomo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b0a3d5594e4342bb9af58ad0c9b99353
https://repository.medri.uniri.hr/islandora/object/medri:6520/datastream/PDF
https://repository.medri.uniri.hr/islandora/object/medri:6520/datastream/PDF
Autor:
Sireteanu Adriana, Popescu Roxana, Braha Elena Emanuela, Bujoran Cornel, Butnariu Lăcrămioara, Caba Lavinia, Graur Elena, Gorduza Eusebiu Vlad, Grămescu Mihaela, Ivanov Iuliu Cristian, Pânzaru Monica, Rusu Cristina
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 22, Iss 2, Pp 157-164 (2014)
Dizabilitatea intelectuală (DI) este o afecțiune frecventă, cu consecințe majore pentru individ, familie și societate. Datorită heterogenității sale clinice și genetice, în aproximativ 50% din cazuri etiologia bolii nu poate fi stabilită.
Externí odkaz:
https://doaj.org/article/2920e16aae1c457385ebdd117f4a7b14
Publikováno v:
Balkan Journal of Medical Genetics, Vol 17, Iss 1, Pp 23-30 (2014)
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seiz
Externí odkaz:
https://doaj.org/article/9e9e381a33cb4958a0486082c7bf8e32