Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature (vol 164A, pg 2879, 2014)

Mirzaa Ghayda M.; Collins Sarah; Dobyns William B.

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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature (vol 164A, pg 2879, 2014)

机译：从头杂合KIF11突变引起的先天性小头畸形和脉络膜视网膜病变：五个新突变和文献综述（第164A卷，第2879页，2014年）

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《American journal of medical genetics, Part A》 |2016年第2期|共1页
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Mirzaa Ghayda M.; Collins Sarah; Dobyns William B.;
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正文语种 eng
中图分类医学遗传学;
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1. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature (vol 164A, pg 2879, 2014) [J] . Mirzaa Ghayda M., Collins Sarah, Dobyns William B. American journal of medical genetics, Part A . 2016,第2期

机译：从头杂合KIF11突变引起的先天性小头畸形和脉络膜视网膜病变：五个新突变和文献综述（第164A卷，第2879页，2014年）
2. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy [J] . The American Journal of Human Genetics . 2012,第2期

机译：KIF11中的突变导致常染色体显性遗传的小头畸形与先天性淋巴水肿和脉络膜视网膜病变相关
3. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): Review of phenotype associated with KIF11 mutations [J] . JonesG.E., OstergaardP., MooreA.T., European journal of human genetics: EJHG . 2014,第7期

机译：伴或不伴脉络膜视网膜病变，淋巴水肿或智力低下（MCLMR）的小头畸形：回顾与KIF11突变相关的表型
4. Detection of de novo IGHV mutations by ultra-deep sequencing from in vitro activated B-cell chronic lymphocytic leukemia cells: Evidence for activation-induced deaminase function [C] . Chu C.C., Patten P.E.M., MacCarthy T, International Congress of Immunology. . 2014

机译：通过来自体外活化B细胞慢性淋巴细胞白血病细胞超深序的De Novo IghV突变检测：活化诱导的脱氨酶功能的证据
5. De Novo Missense Mutations in Neurodevelopmental Disorders [D] . Geisheker, Madeleine R. 2019

机译：神经发育障碍中的Novo畸形突变
6. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature [O] . Ghayda M. Mirzaa, Laura Enyedi, Gretchen Parsons, -1

机译：从头杂合KIF11突变引起的先天性小头畸形和脉络膜视网膜病变：五个新突变和文献综述
7. Corrigendum to “Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86” [O] . Ghayda M. Mirzaa, Sarah Collins, William B. Dobyns 2015

机译：“先天性微症和胆小血病因德诺维杂合子基因术治疗勘查：五种新突变和对文献的审查。 AM J MED Genet第2014年164A：2879-86“

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature (vol 164A, pg 2879, 2014)

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