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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Ellen Windelen, Fabian Küpper, Iris Middeldorf, Frank Schneider, Christian Dornia, Sabine Rudnik‐Schöneborn, Martin Konrad, Claus Peter Schmitt,

Kidney International · 2005 · 348 citations · 45 references

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45

A Simple Estimate of Glomerular Filtration Rate in Children Derived From Body Length and Plasma Creatinine

George J. Schwartz, G B Haycock, Chester M. Edelmann et al. · PEDIATRICS · 1976 · 2.4K citations

, , +17

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

Surya M. Nauli, Francis J. Alenghat, Ying Luo et al. · Nature Genetics · 2003 · 2K citations

, , +14

A genomic view of alternative splicing

Barmak Modrek, Christopher Lee · Nature Genetics · 2002 · 1.3K citations

, , +11

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Perrin C. White · Endocrine Reviews · 2000 · 876 citations

, , +13

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Christopher J. Ward, Marie C. Hogan, Sandro Rossetti et al. · Nature Genetics · 2002 · 763 citations

, , +14