Dov Tiosano

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Bettina Lorenz‐Depiereux, Dirk Schnabel, Dov Tiosano et al. · The American Journal of Human Genetics · 2010 · 374 citations · Full text

Developmental Anomaly, Signal Transduction, Genetic Disorder +6

Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Gertrud Eckstein et al. · The American Journal of Human Genetics · 2006 · 367 citations · Full text

Urology, Sodium Homeostasis, Hypercalciuria Is +9

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Craig F. Munns, Nick Shaw, Máiréad Kiely et al. · Hormone Research in Paediatrics · 2016 · 345 citations · Full text

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz et al. · The American Journal of Human Genetics · 2008 · 277 citations · Full text

Developmental Anomaly, Clinical Disorders, Loss-of-function Mutation +9

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.

P J Malloy, Ze’ev Hochberg, Dov Tiosano et al. · Journal of Clinical Investigation · 1990 · 192 citations · Full text

Primary Immunodeficiency, Vdr Mrna, Autoimmune Disease +14