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Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

机译：aRHGEF9中的错义突变R338W在具有X连锁智力障碍的家庭中具有可变的巨头畸形和宏观兰花症

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Philip Long; Melanie M. May; Victoria M. James; Simone Grannò; John P. Johnson; Patrick Tarpey; Roger E. Stevenson; Kirsten Harvey; Charles E. Schwartz; Robert J. Harvey;
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1. Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism [J] . Philip Long, Melanie M. May, Victoria M. James, Frontiers in Molecular Neuroscience . 2015,第6期

机译：在一个家庭中，在一个家庭中，在一个家庭中的致命突变R338W，具有可变宏观症和宏观思考的X-Conted智力残疾
2. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family [J] . Vera M. Kalscheuer, Victoria M. James, Miranda L. Himelright, Frontiers in Molecular Neuroscience . 2015,第10期

机译： IQSEC2 中的新型错义突变A789V是MRX78家族X连锁智力障碍的基础
3. MISSENSE MUTATIONS DISRUPTING THE HELICASE DOMAIN OF CHROMATIN REMODELLER CHD3 CAUSE A NOVEL NEURODEVELOPMENTAL SYNDROME WITH INTELLECTUAL DISABILITY, MACROCEPHALY AND IMPAIRED SPEECH AND LANGUAGE [J] . Blok L. S., Rousseau J., Twist J., American journal of medical genetics, Part A . 2019,第4期

机译：断阵突变破坏染色质Remodeller CHD3的螺旋酶结构域，导致具有智力残疾，古代畸形和言语和语言受损的新型神经发育综合征
4. Untapped Markets in Cloud Computing: Perspectives and Profiles of Individuals with Intellectual and Developmental Disabilities and Their Families [C] . Ann Cameron Caldwell International conference on human-computer interaction;UAHCI 2011;International conference on universal access in human-computer interaction;HCI international 2011 . 2011

机译：云计算中尚未开发的市场：智力和发育障碍者及其家庭的观点和概况
5. Phenotypes and Variants in Cases Submitted for X-Linked Intellectual Disability (XLID) Gene Panel Testing. [D] . Hill-Harfe, Katherine Leigh. 2014

机译：为X连锁智力障碍（XLID）基因面板测试提交的病例中的表型和变异形式。
6. Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism [O] . Philip Long, Melanie M. May, Victoria M. James, 2015

机译：X连锁智力障碍具有可变大头畸形和大兰花症的家庭中ARHGEF9的错义突变R338W
7. Missense mutation R338W in ARHGEF9 in a family with X-linked intellectual disability with variable macrocephaly and macro-orchidism [O] . Long, P, May, M M, James, V M, 2016

机译：X连锁智力障碍，大头畸形和大睾丸畸形的家庭中ARHGEF9的错义突变R338W

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

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