Nurit Goldstein

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to <i>NR0B1</i> gene mutations

Zohar Landau, Aaron Hanukoglu, Joseph Sack et al. · Clinical Endocrinology · 2009 · 70 citations

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai et al. · Frontiers in Genetics · 2019 · 44 citations · Full text

Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

Dani Bercovich, Arava Elimelech, Joël Zlotogora et al. · Journal of Human Genetics · 2008 · 41 citations · Full text

Mendelian Disorder, Genotype–phenotype Correlations Analysis, Genetic Disorder +8

A Mutation Analysis of the Phenylalanine Hydroxylase (<i>PAH</i>) Gene in the Israeli Population

Dani Bercovich, Arava Elimelech, Tal Yardeni et al. · Annals of Human Genetics · 2008 · 26 citations

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

Ifat Bar-Joseph, Elon Pras, Haike Reznik‐Wolf et al. · Human Genetics · 2012 · 25 citations

Sarcosine Dehydrogenase Gene, Biochemistry, Genetics +3