## Abstract Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas and other nonmalignant tumors of the brain, spinal cord, and peripheral nerves. Although the average age of onset of NF2 is 20 years, some individuals may become symptomatic in c
โฆ LIBER โฆ
A novel hypomorphicMECP2point mutation is associated with a neuropsychiatric phenotype
โ Scribed by Abidemi A. Adegbola; Michael L. Gonzales; Andrew Chess; Janine M. LaSalle; Gerald F. Cox
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 366 KB
- Volume
- 124
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
A point mutation associated with a sever
โ
Dr M. MaCcollin; Kevin Davis; N. Braverman; D. Viskochil; M. Ruttledge; R. Ojema
๐
Article
๐
1996
๐
John Wiley and Sons
๐
English
โ 563 KB
Novel SOD1 N86K mutation is associated w
โ
Marcus Beck; Michael Sendtner; Klaus V. Toyka
๐
Article
๐
2007
๐
John Wiley and Sons
๐
English
โ 259 KB
## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a
Phenotypic diversity associated with the
โ
Killian O'Rourke; Mark R. Buddles; Michael Farrell; Rachel Howley; Sunita Sukura
๐
Article
๐
2009
๐
John Wiley and Sons
๐
English
โ 157 KB
A novel long-QT 5 gene mutation in the C
โ
Eric Schulze-Bahr; Martin Schwarz; Susanne Hoffmann; Horst Wedekind; Harald Funk
๐
Article
๐
2001
๐
Springer
๐
English
โ 107 KB
Atypical dementia associated with a nove
โ
Giuliano Binetti; Simona Signorini; Rosanna Squitti; Antonella Alberici; Luisa B
๐
Article
๐
2003
๐
John Wiley and Sons
๐
English
โ 240 KB
๐ 2 views
A novel mutation in theLRP5gene is assoc
โ
E. R. Barros; M. R. Dias da Silva; I. S. Kunii; O. M. Hauache; M. Lazaretti-Cast
๐
Article
๐
2007
๐
Springer-Verlag
๐
English
โ 57 KB