Yshaia Langer

Magel2 Modulates Bone Remodeling and Mass in Prader‐Willi Syndrome by Affecting Oleoyl Serine Levels and Activity

C. Schaaf, V. Gross‐Tsur, Y. Pollak, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

O. Birk, B. Markus, I. Shelef, 2011, European Journal of Human Genetics.

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

G. Narkis, D. Landau, K. Elbedour, 2013, European Journal of Human Genetics.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

O. Birk, B. Markus, Y. Perez, 2013, European Journal of Human Genetics.

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

D. Landau, O. Birk, B. Markus, 2013, Human mutation.

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

O. Birk, M. Volodarsky, Yshaia Langer, 2014, BMC Medical Genetics.