-
1دورية أكاديمية
المؤلفون: Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis
المصدر: American Journal of Perinatology Reports, Vol 14, Iss 01, Pp e31-e33 (2024)
مصطلحات موضوعية: Cornelia de Lange's syndrome, prenatal diagnosis, whole-exome sequencing, prenatal ultrasound, cohesinopathies, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Karolina Gruca-Stryjak, Emilia Doda-Nowak, Julia Dzierla, Karolina Wróbel, Marta Szymankiewicz-Bręborowicz, Jan Mazela
المصدر: Journal of Clinical Medicine, Vol 13, Iss 8, p 2423 (2024)
مصطلحات موضوعية: Cornelia de Lange syndrome, pediatric genetics, phenotypic variability, cohesinopathies, epigenetics, Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
المصدر: Molecular Genetics and Genomic Medicine. 7(2)
مصطلحات موضوعية: STAG2, X-linked gene, clinical exome sequencing, cohesin complex, cohesin-associated genes, cohesinopathies, human growth, neurodevelopment, reanalysis, Antigens, Nuclear, Cell Cycle Proteins, Child, Preschool, Developmental Disabilities, Genetic Diseases, X-Linked, Growth Disorders, Humans, Male, Mutation, Missense, Phenotype, Polydactyly, Syndrome
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/759783h7
-
4دورية أكاديمية
المؤلفون: Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: STAG2, cohesinopathies, mosaic disorders, supernumerary nipples, bioengineered neuronal organoids, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
6دورية أكاديمية
المؤلفون: Pisani FM
المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 239-248 (2019)
مصطلحات موضوعية: cohesinopathies, developmental disorders, warsaw breakage syndrome, ddx11, genome stability, sister chromatid cohesion., Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
-
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
المؤلفون: Yuan, BoAff1, Aff2, Neira, JuanitaAff1, Aff3, Pehlivan, DavutAff1, Aff4, Santiago-Sim, TeresaAff1, Aff2, Song, Xiaofei, Rosenfeld, JillAff1, Aff2, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P.Aff5, Aff6, Baple, Emma L.Aff7, Aff8, Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, LettieAff7, Aff8, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, MarianneAff1, Aff2, Pietryga, MargueriteAff1, Aff1, Ramsdell, LindaAff5, Aff6, Slattery, Leah, DDD Study, Abid, FaridaAff1, Aff3, Aff4, Bertuch, Alison A.Aff1, Aff3, Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P.Aff1, Aff3, Aff21, Aff22, Aff23, Van Esch, Hilde, Bi, WeiminAff1, Aff2, Cheung, Sau WaiAff1, Aff2, Breman, Amy M.Aff1, Aff2, Smith, Janice L.Aff1, Aff2, Shaw, ChadAff1, Aff2, Crosby, Andrew H., Eng, ChristineAff1, Aff2, Yang, YapingAff1, Aff2, Lupski, James R.Aff1, Aff3, Aff25, Xiao, RuiAff1, Aff2, Liu, PengfeiAff1, Aff2
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):663-675
-
9دورية أكاديمية
المؤلفون: Diana Santos, Mohammad Mahtab, Ana Boavida, Francesca M. Pisani
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 5, p 2308 (2021)
مصطلحات موضوعية: DDX11, DNA helicase, DNA replication, G-quadruplexes, sister chromatid cohesion, cohesinopathies, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
10
المؤلفون: Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G., Wollnik, B.
المصدر: Front. Cell Dev. Biol. 10:1025332 (2022)
مصطلحات موضوعية: Cell Biology, Technology Platforms, Bioengineered Neuronal Organoids, Cohesinopathies, Mosaic Disorders, Stag2, Supernumerary Nipples, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b32f16f2200a9a871e521858a305b0c
https://doi.org/10.3389/fcell.2022.1025332