𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and genetic characterization of an autosomal dominant nephropathy

✍ Scribed by Parvari, Ruti ;Shnaider, Alla ;Basok, Anna ;Katchko, Leonid ;Borochovich, Zvi ;Kanis, Adam ;Landau, Daniel

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
190 KB
Volume
99
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

WHIM syndrome, an autosomal dominant dis
WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies
✍ Gorlin, Robert J.; Gelb, Bruce; Diaz, George A.; Lofsness, Karen G.; Pittelkow, πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 55 KB πŸ‘ 2 views

The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. The latter refers to the retention of white cells in the marrow, which becomes hypercellular. We have found approximately 20 examples of WHIM syndrome in the literature under various designations; the first examp

Autosomal dominant lateral temporal epil
Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q
✍ J. J. Poza; A. SΓ‘enz; A. MartΓ­nez-Gil; N. Cheron; A. M. Cobo; M. Urtasun; J. F. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 164 KB πŸ‘ 1 views

We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily gen