𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of cyclopia

✍ Scribed by Elejalde, B. Rafael ;de Elejalde, Maria Mercedes ;Hamilton, Phillip R. ;Christenson, Richard ;Broekhuizen, Fredrik ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
271 KB
Volume
14
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis availability
✍ Golbus, Mitchell S. πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 91 KB πŸ‘ 1 views
Prenatal diagnosis of Canavan disease
✍ Reuben Matalon; Kimberlee Michals-Matalon πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 90 KB πŸ‘ 1 views
Prenatal diagnosis of Apert syndrome
✍ Chi-Chen Chang; Fuu-Jen Tsai; Horng-Der Tsai; Chang-Hai Tsai; Yao-Yuan Hsieh; Ch πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 208 KB πŸ‘ 2 views

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum

Prenatal diagnosis of Friedreich ataxia
✍ Massimo Pandolfo; Laura Montermini πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 110 KB πŸ‘ 1 views

Friedreich ataxia (FRDA) is an autosomal recessive disorder, the most common of the inherited ataxias. It has an estimated prevalence of 1 in 50 000 and a carrier frequency of about 1 in 90 in Caucasians (Cosse Β΄e et al., 1997;Leone et al., 1990). It is extremely rare among the Chinese and Japanese

Prenatal diagnosis of Menkes disease
✍ Stephen G. Kaler; Zeynep TΓΌmer πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 1 views

About 90-95 per cent of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with MD show great variety, from cytogenetic abnormalities to partial gene deletions to single base-pair changes. As a lethal X-linked trait, an estimated one-third of n

Prenatal diagnosis of genetic osteochond
✍ Kelly, Thaddeua E. ;Hall, Judith G. ;Horton, William ;Scott, Charles I. ;Opitz, πŸ“‚ Article πŸ“… 1983 πŸ› John Wiley and Sons 🌐 English βš– 198 KB πŸ‘ 1 views