المؤلفون: Yang, Yi, Jiang, Siqi, Nie, Min, Jiang, Yan, Li, Mei, Xia, Weibo, Xing, Xiaoping, Wang, Ou^{Aff1, IDs12020024037404_cor8}, Pan, Hui^{Aff1, IDs12020024037404_cor9}

المصدر: Endocrine: International Journal of Basic and Clinical Endocrinology. 85(1):331-340

المؤلفون: Baranová, Ivana^{Aff1, Aff2, Aff3}, Samec, Marek^{Aff1, Aff4, IDs41598024655806_cor2}, Dvorská, Dana, Šťastný, Igor^{Aff1, Aff5}, Janíková, Katarína, Kašubová, Ivana, Hornáková, Andrea, Lukáčová, Eva, Kapinová, Andrea, Biringer, Kamil, Halašová, Erika, Danková, Zuzana^{Aff1, Aff3}

المصدر: Scientific Reports. 14(1)

المؤلفون: Cong, Xiaoyi^{Aff1, Aff2}, Zhang, Tong^{Aff1, Aff2}, Li, Zhenming^{Aff1, Aff2}, Luo, Xiaojin^{Aff1, Aff2}, Hu, Liang^{Aff1, Aff2}, Liu, Weiqiang^{Aff1, Aff2, IDs1288402406522y_cor6}

المصدر: BMC Pregnancy and Childbirth. 24(1)

المؤلفون: Ivana Baranová, Marek Samec, Dana Dvorská, Igor Šťastný, Katarína Janíková, Ivana Kašubová, Andrea Hornáková, Eva Lukáčová, Andrea Kapinová, Kamil Biringer, Erika Halašová, Zuzana Danková

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: CDH13, Droplet digital PCR, CpG methylation, MS-MLPA, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/5091c256c8654dcf88a3b2049f72fddc

المؤلفون: Xiaoyi Cong, Tong Zhang, Zhenming Li, Xiaojin Luo, Liang Hu, Weiqiang Liu

المصدر: BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Low-level mosaicism, Chromosome microarray analysis, Fluorescence in situ hybridization, Karyotyping, CNV-seq, MS-MLPA, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2393

URL الوصول: https://doaj.org/article/118e1ee8d0f54a73b0dee1c254cfe1d5

المؤلفون: Bilo, Larissa, Ochoa, Eguzkine, Lee, Sunwoo, Dey, Daniela, Kurth, Ingo, Kraft, Florian, Rodger, Fay^{Aff2, Aff3}, Docquier, France^{Aff2, Aff3}, Toribio, Ana^{Aff2, Aff3}, Bottolo, Leonardo^{Aff2, Aff4, Aff5}, Binder, Gerhard, Fekete, György, Elbracht, Miriam, Maher, Eamonn R., Begemann, Matthias, Eggermann, Thomas^{Aff1, IDs13148023014535_cor16}

المصدر: Clinical Epigenetics. 15(1)

المؤلفون: Elia Schlaich, Wouter H. G. Hubens, Thomas Eggermann

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: imprinting disorders, mosaicism, MS‐ddPCR, MS‐MLPA, MS‐pyrosequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/43a7dcfcf5934e0b8708de28a9b2f3b3

المؤلفون: Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: incidental findings, MS-MLPA, reference probe, Silver-Russell syndrome, 22q11.2 deletion syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1274056/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/6d6d6e263f2c43be969b0f09df225b77

المؤلفون: Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann

المصدر: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Beckwith–Wiedemann syndrome, Silver–Russell syndrome, Multilocus imprinting disturbances, Maternal effect variants, ImprintSeq, MS-MLPA, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/72db940598164642b5188d503706398c

المؤلفون: Elizabeth Acosta-Fernández, Jorge R. Corona-Rivera, Izabel M. Ríos-Flores, Elizabeth Torres-Anguiano, Alfredo Corona-Rivera, Christian Peña-Padilla, Lucina Bobadilla-Morales

المصدر: Gaceta Médica de México, Vol 158, Iss 4 (2022)

مصطلحات موضوعية: Impronta. Defectos epigenéticos. Síndrome de Beckwith-Wiedemann. Síndrome de Silver-Russell. Región 11p15.5. MS-MLPA., Public aspects of medicine, RA1-1270, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://www.gacetamedicademexico.com/frame_esp.php?id=725; https://doaj.org/toc/0016-3813; https://doaj.org/toc/2696-1288

URL الوصول: https://doaj.org/article/ea1a1616d60843078d577d510bd773fb