BIALLELIC LOSS OF FUNCTION WNT5A MUTATIONS IN AN INFANT WITH SEVERE AND ATYPICAL MANIFESTATIONS OF ROBINOW SYNDROME AND UNAFFECTED PARENTS - A NEW LOCUS FOR AUTOSOMAL RECESSIVE DISEASE

Bernstein J. A.; Esplin E. E.; Jagadeesh K. A.; Birgmeier J.; Homeyer M.; Guturu H.; Wenger A. M.; Bejerano G.

首页> 外文期刊>American journal of medical genetics, Part A >BIALLELIC LOSS OF FUNCTION WNT5A MUTATIONS IN AN INFANT WITH SEVERE AND ATYPICAL MANIFESTATIONS OF ROBINOW SYNDROME AND UNAFFECTED PARENTS - A NEW LOCUS FOR AUTOSOMAL RECESSIVE DISEASE

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BIALLELIC LOSS OF FUNCTION WNT5A MUTATIONS IN AN INFANT WITH SEVERE AND ATYPICAL MANIFESTATIONS OF ROBINOW SYNDROME AND UNAFFECTED PARENTS - A NEW LOCUS FOR AUTOSOMAL RECESSIVE DISEASE

机译：婴幼儿综合征和未受影响的父母的严重和非典型表现的婴儿功能Wnt5a突变的双重损失 - 一种新的常染色体隐性疾病的新基因座

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来源
《American journal of medical genetics, Part A》 |2018年第6期|共1页
作者
Bernstein J. A.; Esplin E. E.; Jagadeesh K. A.; Birgmeier J.; Homeyer M.; Guturu H.; Wenger A. M.; Bejerano G.;
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作者单位

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

Stanford Univ Sch Med Stanford CA 94305 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. BIALLELIC LOSS OF FUNCTION WNT5A MUTATIONS IN AN INFANT WITH SEVERE AND ATYPICAL MANIFESTATIONS OF ROBINOW SYNDROME AND UNAFFECTED PARENTS - A NEW LOCUS FOR AUTOSOMAL RECESSIVE DISEASE [J] . Bernstein J. A., Esplin E. E., Jagadeesh K. A., American journal of medical genetics, Part A . 2018,第6期

机译：婴幼儿综合征和未受影响的父母的严重和非典型表现的婴儿功能Wnt5a突变的双重损失 - 一种新的常染色体隐性疾病的新基因座
2. WNT5A mutations in patients with autosomal dominant Robinow syndrome [J] . Anthony D. Person, Soraya Beiraghi, Christine M. Sieben, Developmental Dynamics . 2010,第1期

机译：常染色体显性遗传性Robinow综合征患者的WNT5A突变
3. WNT5A mutations in patients with autosomal dominant Robinow syndrome. [J] . Person AD, Beiraghi S, Sieben CM, Developmental dynamics: an official publication of the American Association of Anatomists . 2010,第1期

机译：常染色体显性遗传性Robinow综合征患者的WNT5A突变。
4. WNT5A Mutations in Patients with Autosomal Dominant Robinow Syndrome [O] . Anthony D. Person, Soraya Beiraghi, Christine M. Sieben, -1

机译：WNT5a突变患者常染色体显性Robinow综合征
5. Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome [O] . Johannes Birgmeier, Edward D. Esplin, Karthik A. Jagadeesh, 2018

机译：具有严重和非典型表现的婴儿的双曲线损失WNT5A突变罗宾威综合征

BIALLELIC LOSS OF FUNCTION WNT5A MUTATIONS IN AN INFANT WITH SEVERE AND ATYPICAL MANIFESTATIONS OF ROBINOW SYNDROME AND UNAFFECTED PARENTS - A NEW LOCUS FOR AUTOSOMAL RECESSIVE DISEASE

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