6 results on '"Hoefele, Julia"'
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2. COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9
3. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)
4. Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24
5. Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations
6. Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred
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