Concepedia

Nira Schreyer‐Shafir

NS

Statistics

Publications

2

Citations

110

H-Index

2

Active since

2006

Affiliations

Sheba Medical Center(Current)

Nira Schreyer‐Shafir is an author at Sheba Medical Center specializing in molecular genetics, pediatric nephrology, and rare disease genetics.

Publications per year

2006–2017

2

Publications

2

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Andreas Janecke, Ruijuan Xu, Elisabeth Steichen‐Gersdorf et al. · Human Mutation · 2017 · 82 citations · Full text

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A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

Nira Schreyer‐Shafir, Marjan Huizing, Yair Anikster et al. · Human Mutation · 2006 · 28 citations · Full text

, , +17

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