المؤلفون: Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: chromosome microarray analysis (CMA), genomic disorders, pathogenic copy number variants (pCNVs), pregnancy loss (PL), products of conception (POC), spontaneous abortion (SAB), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/b6114eb278a54495b6af068716582854Test

المؤلفون: Wei Shin Chou, Yu Ming Shiao, Jia Shing Chen, Ju Chin Tsauer, Yi Fen Chang, Yen-Hui Chiu, Ching Hua Hsiao

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 3, Pp 510-513 (2022)

مصطلحات موضوعية: Congenital primary aphakia, Blepharophimosis, Compound heterozygous, Chromosome microarray analysis (CMA), Whole exon sequencing (WES), Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1028455922000870Test; https://doaj.org/toc/1028-4559Test

الوصول الحر: https://doaj.org/article/125cdae32f3b4a60b9613fb3660733aaTest

المؤلفون: Peng, Gang, Zhou, Qinghua, Chai, Hongyan, Wen, Jiadi, Zhao, Hongyu, Taylor, Hugh S., Jiang, Yong-Hui, Li, Peining

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Chromosome microarray analysis (CMA), Genomic disorders, Pathogenic copy number variants (pCNVs), Pregnancy loss (PL), Products of conception (POC), Spontaneous abortion (SAB)

وصف الملف: application/pdf

العلاقة: Molecular Genetics & Genomic Medicine; Peng G, Zhou Q, Chai H, et al. Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses. Mol Genet Genomic Med. 2023;11(8):e2181. doi:10.1002/mgg3.2181; https://hdl.handle.net/1805/38602Test

الإتاحة: https://doi.org/10.1002/mgg3.2181Test
https://hdl.handle.net/1805/38602Test

المؤلفون: Jui-Hung Yen, Shao-Yin Chu, Yann-Jang Chen, Yi-Chieh Su, Chun-Ching Chien, Chun-Ying Weng, Pei-Yi Chen

المصدر: Diagnostics; Volume 12; Issue 8; Pages: 1900

مصطلحات موضوعية: complex chromosomal rearrangement (CCR), chromoanagenesis, chromoplex, developmental delay, chromosome microarray analysis (CMA), cytogenetics

وصف الملف: application/pdf

العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12081900Test

الإتاحة: https://doi.org/10.3390/diagnostics12081900Test

المؤلفون: Anna Maria Chilosi, Irina Podda, Ivana Ricca, Alessandro Comparini, Beatrice Franchi, Simona Fiori, Rosa Pasquariello, Claudia Casalini, Paola Cipriani, Filippo Maria Santorelli

المصدر: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 313

مصطلحات موضوعية: childhood apraxia of speech, speech and language disorders, comorbidities, complex neurodevelopmental disorders, genetic investigation, chromosome microarray analysis (CMA), neuroimaging

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/jpm12020313Test

الإتاحة: https://doi.org/10.3390/jpm12020313Test

المؤلفون: Jessica Kang, Chien-Nan Lee, Yi-Ning Su, Ming-Wei Lin, Yi-Yun Tai, Wen-Wei Hsu, Kuan-Ying Huang, Chi-Ling Chen, Chien-Hui Hung, Shin-Yu Lin

المصدر: Frontiers in Medicine, Vol 8 (2021)

مصطلحات موضوعية: 15q11.2 microdeletion, 15q11.2 microduplication, BP1–BP2, copy number variant, chromosome microarray analysis (CMA), prenatal, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2021.754521/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/42dd194fdf3c469b89233c20679cb7c2Test

المؤلفون: Xiaolei Xie, Weihe Tan, Fuguang Li, Eric Carrano, Paola Ramirez, Autumn DiAdamo, Brittany Grommisch, Katherine Amato, Hongyan Chai, Jiadi Wen, Peining Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

مصطلحات موضوعية: chromosome microarray analysis (CMA), fluorescence in situ hybridization (FISH), karyotyping, mosaicism, noninvasive prenatal screening (NIPS), sex chromosome abnormalities (SCA), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/82ae4012a1984e3fad6e8045971b483cTest

المؤلفون: Chilosi, Anna Maria, Podda, Irina, Ricca, Ivana, Comparini, Alessandro, Franchi, Beatrice, Fiori, Simona, Pasquariello, Rosa, Casalini, Claudia, Cipriani, Paola, Santorelli, Filippo Maria

المساهمون: Chilosi, Anna Maria, Podda, Irina, Ricca, Ivana, Comparini, Alessandro, Franchi, Beatrice, Fiori, Simona, Pasquariello, Rosa, Casalini, Claudia, Cipriani, Paola, Santorelli, Filippo Maria

مصطلحات موضوعية: childhood apraxia of speech, chromosome microarray analysis (CMA), comorbiditie, complex neurodevelopmental disorder, genetic investigation, neuroimaging, speech and language disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35207801; info:eu-repo/semantics/altIdentifier/wos/WOS:000769703900001; volume:12; issue:2; firstpage:313; journal:JOURNAL OF PERSONALIZED MEDICINE; https://hdl.handle.net/11568/1158511Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125305046

الإتاحة: https://doi.org/10.3390/jpm12020313Test
https://hdl.handle.net/11568/1158511Test