Suchergebnisse - "Traboulsi, E I"

PubPharm (12)

1

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature

enthalten in: Ophthalmic genetics | 2018

von Bessette, A. | DeBenedictis, M. | Traboulsi, E.

2

Associated systemic and ocular disorders in patients with congenital unilateral cataracts : the Infant Aphakia Treatment Study experience

enthalten in: Eye (London, England) | 2016

von Traboulsi, E. | Vanderveen, D. | Morrison, D. | +88

3

The Marshall M. Parks memorial lecture : making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis

enthalten in: The British journal of ophthalmology | 2010

von Traboulsi, E.

4

Spondylometaphyseal dysplasia with cone-rod dystrophy

enthalten in: Ophthalmic genetics | 2010

von Turell, M. | Morrison, S. | Traboulsi, E.

5

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects

enthalten in: Journal of neurology | 2008

von Loddenkemper, T. | Friedman, N. | Ruggieri, P. | +3

6

Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant

enthalten in: The British journal of ophthalmology | 2008

von Fu, E. | Kosmorsky, G. | Traboulsi, E.

7

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

enthalten in: Journal of neurology | 2008

von Loddenkemper, T. | Friedman, N. | Ruggieri, P. | +3

8

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

enthalten in: Journal of neurology | 2008

von Loddenkemper, T. | Friedman, N. | Ruggieri, P. | +3

9

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28

enthalten in: Journal of medical genetics | 2006

von Melamud, A. | Shen, G. | Chung, D. | +8

10

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

enthalten in: Journal of medical genetics | 2006

von Chan, W. | Traboulsi, E. | Arthur, B. | +3