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Researchers visualize vasculature within native liver cyst walls of human ADPKD patients

Researchers visualize vasculature within native liver cyst walls of human ADPKD patients

Researchers demystify polar body analysis reproduction technique

Researchers demystify polar body analysis reproduction technique

Research study links partial epilepsy to the disruption of brain development during early childhood

Research study links partial epilepsy to the disruption of brain development during early childhood

Discovery of gene linked to maturity-onset diabetes of the young

Discovery of gene linked to maturity-onset diabetes of the young

Advances in cystic fibrosis genetic testing

Advances in cystic fibrosis genetic testing

Two new hereditary corneal disorders discovered

Two new hereditary corneal disorders discovered

Measuring quality of life in patients with hereditary kidney disease

Measuring quality of life in patients with hereditary kidney disease

Genetic link between cats and humans for retinitis pigmentosa

Genetic link between cats and humans for retinitis pigmentosa

Launch of new foundation for Batten disease

Launch of new foundation for Batten disease

Breakthrough in prenatal screening for Down syndrome

Breakthrough in prenatal screening for Down syndrome

New drug shows promise for phenylketonuria

New drug shows promise for phenylketonuria

Discovery of mechanism that may explain Parkinson's and other neurological disorders

Discovery of mechanism that may explain Parkinson's and other neurological disorders

Merck Serono's Kuvan receives European marketing authorization

Merck Serono's Kuvan receives European marketing authorization

Potentially new biomarkers for Alzheimer's

Potentially new biomarkers for Alzheimer's

Discovery of gene behind new form of intellectual disability

Discovery of gene behind new form of intellectual disability

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Decline in cystic fibrosis since introduction of prenatal carrier screening

Decline in cystic fibrosis since introduction of prenatal carrier screening

Novel hMSH2 gene mutation in colorectal cancer patients

Novel hMSH2 gene mutation in colorectal cancer patients

Scorpion venom may hold key to controlling cystic fibrosis

Scorpion venom may hold key to controlling cystic fibrosis

Discovery of new cataract gene

Discovery of new cataract gene