Ophthalmic Paediatrics and Genetics

Titel Veröffentlichungsdatum Sprache Zitate
Epidemiology of congenital eye malformations in 131,760 consecutive births1992/01/01English76
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation1992/01/01English57
Age and lateness of referral as determinants of extra-ocular retinoblastoma1989/01/01English54
Visual anomalies associated with albinism1990/01/01English52
Bietti's crystalline retinopathy1986/01/01English51
Peters'-Plus: A new syndrome1984/01/01English47
Traumatic cataracts in young children: Correction of aphakia by intraocular lens implantation1987/01/01English39
Genetic and environmental effects on the development of myopia in Chinese twin children1985/01/01English38
Broad-Spectrum Möbius Syndrome Associated with a 1;11 Chromosome Translocation1993/01/01English37
Ocular changes in long-term evolution of infantile cystinosis1987/01/01English36
X-linked clinical anophthalmos Localization of the gene to Xq27-Xq281991/01/01English33
An update on microphthalmos and coloboma: A brief survey of genetic disorders with microphthalmos and coloboma1991/01/01English32
Dominant Charge association1985/01/01English32
Hermansky-Pudlak syndrome (HPS): An epidemiologic study1990/01/01English30
Retinoma: Case studies°1991/01/01English29
Ocular coloboma and multiple congenital anomalies: The CHARGE association1983/01/01English28
Schnyder's dystrophy Progression and metabolism1986/01/01English27
Chemotherapy in metastatic retinoblastoma1987/01/01English27
Second non-ocular tumours in survivors of bilateral retinoblastoma: A 30-year follow-up1991/01/01English26
Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field1987/01/01English26
Macular corneal dystrophy Lack of keratan sulfate in serum and cornea1986/01/01English26
North Carolina macular dystrophy (MCDR1)1993/01/01English26
A Practical Approach to Albino Diagnosis VEP Misrouting Across the Age Span1992/01/01English25
The Spectrum of Associated Ocular and Systemic Malformations1992/01/01English25
Orbital recurrence of retinoblastoma1987/01/01English25
Red or rufous albinism in Southern Africa1990/01/01English24
Oxidative stress in trisomy 21: A possible role in cataractogenesis1989/01/01English23
Ophthalmic Genetics in China1983/01/01English22
Retinoblastoma cells in tissue culture1988/01/01English22
Structure of Lisch nodules in neurofibromatosis Type 11991/01/01English22