Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg
โฆ LIBER โฆ
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort
โ Scribed by Cecilia Mellado; Annapurna Poduri; Danielle Gleason; Princess C. Elhosary; Brenda J. Barry; Jennifer N. Partlow; Bernard S. Chang; Gary M. Shaw; A. James Barkovich; Christopher A. Walsh
- Book ID
- 101450817
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 113 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Exclusion of COL1A1, COL1A2, and COL3A1
โ
Boris P. Sokolov; Alexander N. Prytkov; Gerard Tromp; Robert G. Knowlton; Darwin
๐
Article
๐
1991
๐
Springer
๐
English
โ 580 KB
A combined analytical approach reveals n
โ
Emanuela Signori; Emanuela Massi; Maria Giovanna Matera; Monica Poscente; Caroli
๐
Article
๐
2007
๐
John Wiley and Sons
๐
English
โ 158 KB
๐ 1 views
## Abstract Multiple osteochondromas (MO), also known as hereditary multiple exostoses (HME), is one of the most common hereditary musculoskeletal diseases in Caucasians (1/50,000) with wide clinical variability and genetic heterogeneity. Two genes have thus far been identified as causing the disea
Investigation of four candidate genes (I
โ
Han, Xuelei; Yang, Huawei; Jiang, Tengfei; Zhang, Qingde; Zeng, Cuiping; Fan, Bi
๐
Article
๐
2013
๐
Springer
๐
English
โ 344 KB
Candidate gene association study of solu
โ
Sarra E. Jamieson; Jacqueline K. White; Joanna M.M. Howson; Rebecca Pask; Anne N
๐
Article
๐
2005
๐
Elsevier Science
๐
English
โ 71 KB
The contribution of LARGE genomic rearra
โ
S Sawyer; S Boyle; MA Young; S Kovalenko; R Doherty; J McKinley; K Alsop; M Rehf
๐
Article
๐
2012
๐
BioMed Central
๐
English
โ 80 KB
Analysis of two immune function genes (C
โ
Omoumi, Ardeshir; Fok, Alice; Hsiung, Ging-Yuek
๐
Article
๐
2012
๐
Elsevier Science
๐
English
โ 54 KB