Choni Rinat

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

Ruth Belostotsky, Eric Seboun, Gregory H. Idelson et al. · The American Journal of Human Genetics · 2010 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Ruth Belostotsky, Efrat Ben‐Shalom, Choni Rinat et al. · The American Journal of Human Genetics · 2011 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Hyperostosis–Hyperphosphatemia Syndrome: A Congenital Disorder of <i>O</i>-Glycosylation Associated With Augmented Processing of Fibroblast Growth Factor 23

Yaacov Frishberg, Nobuaki Ito, Choni Rinat et al. · Journal of Bone and Mineral Research · 2006 · 164 citations

Medicine, Endocrinology, Molecular Medicine +17

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Asif Ali, P. T. Christie, I. V. Grigorieva et al. · Human Molecular Genetics · 2006 · 152 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in NPHS2 Encoding Podocin Are a Prevalent Cause of Steroid-Resistant Nephrotic Syndrome among Israeli-Arab Children

Yaacov Frishberg, Choni Rinat, Orli Megged et al. · Journal of the American Society of Nephrology · 2002 · 126 citations

Medicine, Genetics, Nephrology +17