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Links from Nucleotide

Items: 5

1.
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period
Ori Eyal, Michal Berkenstadt, Haike Reznik‐Wolf, Hana Poran, Tomer Ziv‐Baran, Lior Greenbaum, Hagit Yonath, Elon Pras
Mol Genet Genomic Med. 2019 Apr; 7(4): e00573. Published online 2019 Jan 28. doi: 10.1002/mgg3.573
PMCID:
PMC6465671
AbstractArticlePDF–401K
2.
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
Maria E.S. Gomes, Thatiane Y. Kanazawa, Fernanda R. Riba, Natálya G. Pereira, Maria C.C. Zuma, Natana C. Rabelo, Maria T. Sanseverino, Dafne D.G. Horovitz, Juan C. Llerena Jr., Denise P. Cavalcanti, Sayonara Gonzalez
Mol Syndromol. 2018 Feb; 9(2): 92–99. Published online 2018 Feb 2. doi: 10.1159/000486697
PMCID:
PMC5836216
AbstractArticlePDF–329K
3.
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir
Diagn Pathol. 2017; 12: 47. Published online 2017 Jul 5. doi: 10.1186/s13000-017-0642-3
PMCID:
PMC5499044
AbstractArticlePDF–918K
4.
Establishment and application of a multiplex genetic mutation-detection method of lung cancer based on MassARRAY platform
Hong-Xia Tian, Xu-Chao Zhang, Zhen Wang, Jian-Guang Chen, Shi-Liang Chen, Wei-Bang Guo, Yi-Long Wu
Cancer Biol Med. 2016 Mar; 13(1): 68–76. doi: 10.28092/j.issn.2095-3941.2015.0094
PMCID:
PMC4850129
AbstractArticlePDF–1.1M
5.
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
Federico di Rocco, Geneviève Baujat, Eric Arnaud, Dominique Rénier, Jean-Louis Laplanche, Valérie Cormier Daire, Corinne Collet
Eur J Hum Genet. 2014 Dec; 22(12): 1413–1416. Published online 2014 Apr 16. doi: 10.1038/ejhg.2014.57
PMCID:
PMC4231413
AbstractArticlePDF–1.1M

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