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Publications by María Sagarra-Tió

On the Hyperferritinemia and Hereditary Cataract Syndrome

Open Journal of Blood Diseases

English

Related publications

Homozygous Mutation of the 5'UTR Region of the L-Ferritin Gene in the Hereditary Hyperferritinemia Cataract Syndrome and Its Impact on the Phenotype

English

Clinical Features and Molecular Analysis of Seven British Kindreds With Hereditary Hyperferritinaemia Cataract Syndrome

European Journal of Human Genetics

English

Cataract-Deafness-Hypogonadism Syndrome

English

Calpain May Contribute to Hereditary Cataract Formation in Sheep

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Hereditary Breast and Ovarian Cancer Syndrome

Klinicka Onkologie

English

Cataract Associated With an Hereditary Retinal Lesion in Rats

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

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Hereditary Cup-Shaped Ears and the Pierre Robin Syndrome.

Journal of Medical Genetics

English

SMAD4 Mutation and the Combined Syndrome of Juvenile Polyposis Syndrome and Hereditary Haemorrhagic Telangiectasia

Respiratory Medicine

English

Hereditary C1q Deficiency and Secondary Sjogren's Syndrome

Annals of the Rheumatic Diseases

Molecular Biology

English