Search

Author/Creator El-Shanti, H

3. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Issue 7 (1st July 2005)

Authors:
Ferguson, P J; Chen, S; Tayeh, M K; Ochoa, L; Leal, S M; Pelet, A; Munnich, A; Lyonnet, S; Majeed, H A; El-Shanti, H
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 7(2005)
Page Start:
551
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?. Issue 1 (1st January 2003)

Authors:
Jbour, A-K; Mubaidin, A F; Till, M; El-Shanti, H; Hadidi, A; Ajlouni, K M
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 1(2003)
Page Start:
e2
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗