Shlomo Almashanu

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström et al. · International Journal of Neonatal Screening · 2021 · 221 citations · Full text

Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Jose A. Camacho, Cassandra Obie, Barbara J. Biery et al. · Nature Genetics · 1999 · 204 citations

Mitochondrial Ornithine Transporter, Urology, Mendelian Disorder +8

Functional Consequences of PRODH Missense Mutations

Hans‐Ulrich Bender, Shlomo Almashanu, Gary Steel et al. · The American Journal of Human Genetics · 2005 · 149 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +5

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Matthias R. Baumgartner, Shlomo Almashanu, Terttu Suormala et al. · Journal of Clinical Investigation · 2001 · 115 citations · Full text

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights

Erez Rechavi, Atar Lev, Tali Stauber et al. · Frontiers in Immunology · 2017 · 78 citations · Full text