标题
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155, Issue 6, Pages 1336-1351
出版商
Wiley
发表日期
2011-05-06
DOI
10.1002/ajmg.a.34049
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
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- De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation
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- Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale
- (2010) Tetsuya Kibe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Interstitial deletion of chromosome 1 (q23-25). Report of a case
- (2010) Margherita Cirillo Silengo et al. CLINICAL GENETICS
- Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)
- (2010) F. A. Beemer et al. CLINICAL GENETICS
- Interstitial deletion of the long arm of chromosome 1, del(1)(q21-q25) in a profoundly retarded 8-year-old girl with multiple anomalies
- (2010) A. Schinzel et al. CLINICAL GENETICS
- Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
- (2010) Angela L Duker et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Novel CENPJ mutation causes Seckel syndrome
- (2010) M. S. Al-Dosari et al. JOURNAL OF MEDICAL GENETICS
- Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
- (2009) BC Ballif et al. CLINICAL GENETICS
- Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
- (2009) Jill A. Rosenfeld et al. Journal of Neurodevelopmental Disorders
- Myelin Proteomics: Molecular Anatomy of an Insulating Sheath
- (2009) Olaf Jahn et al. MOLECULAR NEUROBIOLOGY
- Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
- (2009) Ryan N Traylor et al. Molecular Cytogenetics
- Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
- (2008) Maria Descartes et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Dnm3os, a non-coding RNA, is required for normal growth and skeletal development in mice
- (2008) Tokumitsu Watanabe et al. DEVELOPMENTAL DYNAMICS
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
- (2008) A. Rauch et al. SCIENCE
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