Associated Papers
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
Searching for the Molecular Basis of Partial Deafness.
Oziębło D et al.
International Journal of Molecular Sciences, 2022
35682719 (PubMed )
Supplement: ijms-23-06029-s001.zip › TableS2.xlsx › Arkusz
Genomic medicine for kidney disease.
Groopman EE et al.
Nature Reviews. Nephrology, 2018
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Kidney International, 2014
24429398 (PubMed )
Supplement: NIHMS543078-supplement-supplement_1.pdf
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Orten DJ et al.
Human Mutation, 2008
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