المؤلفون: Qianqian Li, Xiaofan Zhu, Chenguang Yu, Lin Shang, Ranran Li, Xia Wang, Yaping Yang, Jingjing Meng, Xiangdong Kong

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: external ophthalmoplegia with rib and vertebral anomalies, trio-based exome sequencing, paternal uniparental isodisomy, chromosome 12, the myogenic factor 5 gene, homozygous mutation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.780363/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/75d64e65e37b4692b1474c7697d1d637Test

المؤلفون: Catia Mio, Nadia Passon, Federico Fogolari, Claudia Cesario, Antonio Novelli, Carla Pittini, Giuseppe Damante

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: Cornelia De Lange syndrome, HDAC8, molecular modeling, trio‐based exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/971629ff9a734a8e9ec9c3055dad62b3Test

المؤلفون: Mio C., Passon N., Fogolari F., Cesario C., Novelli A., Pittini C., Damante G.

المساهمون: Mio, C., Passon, N., Fogolari, F., Cesario, C., Novelli, A., Pittini, C., Damante, G.

مصطلحات موضوعية: Cornelia De Lange syndrome, HDAC8, molecular modeling, trio-based exome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000680325700001; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11390/1209421Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111710038

الإتاحة: https://doi.org/10.1002/mgg3.1612Test
http://hdl.handle.net/11390/1209421Test

المؤلفون: Howaldt, Antonia, Hennig, Anna Floriane, Rolvien, Tim, Rössler, Uta, Stelzer, Nina, Knaus, Alexej, Böttger, Sebastian, Zustin, Jozef, Geißler, Sven, Oheim, Ralf, Amling, Michael, Howaldt, Hans‐Peter, Kornak, Uwe

مصطلحات موضوعية: LRRK1, NEXT GENERATION SEQUENCING, OSTEOPETROSIS, OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA, TRIO-BASED EXOME SEQUENCING, ddc:610

وصف الملف: application/pdf

العلاقة: https://refubium.fu-berlin.de/handle/fub188/34190Test; http://dx.doi.org/10.17169/refubium-33908Test

الإتاحة: https://doi.org/10.17169/refubium-33908Test
https://doi.org/10.1002/jbmr.3995Test
https://refubium.fu-berlin.de/handle/fub188/34190Test

المؤلفون: Qianqian Li (386223), Xiaofan Zhu (447606), Chenguang Yu (2807977), Lin Shang (4800750), Ranran Li (3520220), Xia Wang (36364), Yaping Yang (292220), Jingjing Meng (101803), Xiangdong Kong (534996)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, external ophthalmoplegia with rib and vertebral anomalies, trio-based exome sequencing, paternal uniparental isodisomy, chromosome 12, the myogenic factor 5 gene, homozygous mutation

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Case_Report_A_Novel_Homozygous_Mutation_in_MYF5_Due_to_Paternal_Uniparental_Isodisomy_of_Chromosome_12_in_a_Case_of_External_Ophthalmoplegia_With_Rib_and_Vertebral_Anomalies_zip/19114763Test

الإتاحة: https://doi.org/10.3389/fgene.2021.780363.s001Test

المؤلفون: Hans-Peter Howaldt, Ralf Oheim, Sebastian Böttger, Nina Stelzer, Michael Amling, Anna Floriane Hennig, Jozef Zustin, Alexej Knaus, Uwe Kornak, Tim Rolvien, Uta Rössler, Sven Geißler, Antonia Howaldt

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchReferences. 35(7)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Vacuolar Proton-Translocating ATPases, Endocrinology, Diabetes and Metabolism, Osteoclasts, 030209 endocrinology & metabolism, Protein Serine-Threonine Kinases, Osteochondrodysplasias, Bone resorption, TCIRG1, 03 medical and health sciences, Osteosclerosis, 0302 clinical medicine, Osteoclast, medicine, Humans, Orthopedics and Sports Medicine, Bone Resorption, NEXT GENERATION SEQUENCING, biology, business.industry, OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA, Osteonecrosis, Osteopetrosis, LRRK1, medicine.disease, Resorption, 030104 developmental biology, medicine.anatomical_structure, Jaw, Dysplasia, Mutation, biology.protein, CLCN7, business, TRIO-BASED EXOME SEQUENCING, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02676ec9467fd0ebe11b9db2fa696dc2Test
https://pubmed.ncbi.nlm.nih.gov/32119750Test