المؤلفون: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina

المساهمون: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina

مصطلحات موضوعية: X-linked disease, non-invasive whole exome sequencing, fetal cell-free DNA, escapee gene, X-inactivation, Mullegama–Klein–Martinez syndrome (MKMS), STAG2 gene

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35887945; info:eu-repo/semantics/altIdentifier/wos/WOS:000831365000001; volume:11; issue:14; numberofpages:10; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/11584/342080Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136356779; https://www.mdpi.com/2077-0383/11/14/4182Test

الإتاحة: https://doi.org/10.3390/jcm11144182Test
http://hdl.handle.net/11584/342080Test
https://www.mdpi.com/2077-0383/11/14/4182Test

المؤلفون: Aldesia Provenzano, Andrea La Barbera, Francesco Lai, Andrea Perra, Antonio Farina, Ettore Cariati, Orsetta Zuffardi, Sabrina Giglio

المصدر: Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4182

مصطلحات موضوعية: X-linked diseases, non-invasive whole exome sequencing, fetal cell-free DNA, escapee genes, X-inactivation

وصف الملف: application/pdf

العلاقة: Obstetrics & Gynecology; https://dx.doi.org/10.3390/jcm11144182Test

الإتاحة: https://doi.org/10.3390/jcm11144182Test

المؤلفون: Provenzano, Aldesia, Farina, Antonio, Seidenari, Anna, Azzaroli, Francesco, Serra, Carla, Della Gatta, Anna, Zuffardi, Orsetta, Giglio, Sabrina Rita

المساهمون: Provenzano, Aldesia, Farina, Antonio, Seidenari, Anna, Azzaroli, Francesco, Serra, Carla, Della Gatta, Anna, Zuffardi, Orsetta, Giglio, Sabrina Rita

مصطلحات موضوعية: Exome sequencing, Fetal cell free DNA, Liver disorder, Non-invasive WES, WES in fetal cell free DNA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34679599; info:eu-repo/semantics/altIdentifier/wos/WOS:000715526700001; volume:11; issue:10; firstpage:1904; journal:DIAGNOSTICS; http://hdl.handle.net/11584/320738Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117780882

الإتاحة: https://doi.org/10.3390/diagnostics11101904Test
http://hdl.handle.net/11584/320738Test

المؤلفون: Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Della Gatta, Orsetta Zuffardi, Sabrina Rita Giglio

المصدر: Diagnostics; Volume 11; Issue 10; Pages: 1904

مصطلحات موضوعية: fetal cell free DNA, exome sequencing, non-invasive WES, liver disorder

وصف الملف: application/pdf

العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11101904Test

الإتاحة: https://doi.org/10.3390/diagnostics11101904Test

المؤلفون: O. V. Radkov, L. N. Korichkina, O. V. Sizova, Y. V. Volf, E. K. Paramonova

المصدر: Acta Biomedica Scientifica, Vol 3, Iss 2, Pp 20-24 (2018)

مصطلحات موضوعية: preeclampsia, fetal cell-free dna, total cell-free dna, Science

وصف الملف: electronic resource

العلاقة: https://www.actabiomedica.ru/jour/article/view/553Test; https://doaj.org/toc/2541-9420Test; https://doaj.org/toc/2587-9596Test

الوصول الحر: https://doaj.org/article/5a1b9dc062e24b2d9a6afb14cd15383cTest

المؤلفون: Simeon Eche, Irene Mackraj, Jagidesa Moodley

المصدر: Hypertension in Pregnancy, Vol 36, Iss 4, Pp 295-301 (2017)

مصطلحات موضوعية: fetal cell-free dna, total cell-free dna, soluble human leucocyte antigen, pre-eclampsia, gestational hypertension, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1064-1955Test; https://doaj.org/toc/1525-6065Test

الوصول الحر: https://doaj.org/article/51750c798f494071bffba9212ec718f3Test

المؤلفون: Sabrina Giglio, Anna Seidenari, Carla Serra, Aldesia Provenzano, Antonio Farina, Anna Nunzia Della Gatta, Orsetta Zuffardi, Francesco Azzaroli

المساهمون: Provenzano A., Farina A., Seidenari A., Azzaroli F., Serra C., Gatta A.D., Zuffardi O., Giglio S.R.

المصدر: Diagnostics, Vol 11, Iss 1904, p 1904 (2021)
Diagnostics

مصطلحات موضوعية: Exome sequencing, Medicine (General), medicine.medical_specialty, Pregnancy, In vitro fertilisation, Obstetrics, business.industry, medicine.medical_treatment, Clinical Biochemistry, Benign Recurrent Intrahepatic Cholestasis, Case Report, Disease, Jaundice, medicine.disease, Liver disorder, Liver disease, Fetal cell free DNA, R5-920, medicine, Non-invasive WES, medicine.symptom, business, Twin Pregnancy

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d7259bc57bd91c2708364693522ea8Test
http://hdl.handle.net/11585/867112Test

المؤلفون: Aldesia Provenzano, Viviana Palazzo, Paolo Reho, Angelica Pagliazzi, Annabella Marozza, Antonio Farina, Orsetta Zuffardi, Sabrina Giglio

المساهمون: Provenzano, Aldesia, Palazzo, Viviana, Reho, Paolo, Pagliazzi, Angelica, Marozza, Annabella, Farina, Antonio, Zuffardi, Orsetta, Giglio, SABRINA RITA

مصطلحات موضوعية: Prenatal exome sequencing, Fetal cell free DNA, Non invasive prenatal diagnosi, Fetal anomalie, Aneuploidie, Gene sequence variants

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32277492; info:eu-repo/semantics/altIdentifier/wos/WOS:000527080300001; volume:40; issue:7; firstpage:905; lastpage:908; numberofpages:4; journal:PRENATAL DIAGNOSIS; http://hdl.handle.net/11584/298028Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083668001

الإتاحة: https://doi.org/10.1002/pd.5700Test
http://hdl.handle.net/11584/298028Test

المؤلفون: 湯硯安, 孫孝芳

المساهمون: 分子醫學研究所

مصطلحات موضوعية: 非侵入式產前分子檢測；帶因者篩檢；胎兒游離核酸；次世代定序；全外顯子組定序；母胎精準醫學, non-invasive prenatal test (NIPT)； carrier genetic screening； fetal cell-free DNA (cfDNA)； next generation sequencing (NGS)； whole exome sequencing (WES)； maternal-fetal precision medicine

وصف الملف: 116 bytes; text/html

العلاقة: http://ir.lib.ncku.edu.tw/handle/987654321/203281Test; http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/-1/1082321B006020Test(第1年).pdf; http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/1/index.htmlTest

الإتاحة: http://ir.lib.ncku.edu.tw/handle/987654321/203281Test
http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/-1/1082321B006020Test(第1年).pdf
http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/1/index.htmlTest

المؤلفون: Capoluongo E, Plebani Mario

المساهمون: Capoluongo, E, Plebani, Mario

مصطلحات موضوعية: prenatal diagnosi, guideline, circulating fetal cell-free DNA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000334050800010; volume:52; issue:5; firstpage:609; lastpage:611; numberofpages:3; journal:CLINICAL CHEMISTRY AND LABORATORY MEDICINE; http://hdl.handle.net/11588/777943Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899029461

الإتاحة: https://doi.org/10.1515/cclm-2014-0066Test
http://hdl.handle.net/11588/777943Test