Eva Horemuzova

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Sheila Unger, Maria W. Górna, Antony Le Béchec et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text

Medicine, Endocrinology, Genetics +13

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Giedré Grigelioniené, Hiroshi Suzuki, Fulya Taylan et al. · Nature Medicine · 2019 · 106 citations

Medicine, Genetics, Molecular Genetics +14

Breathing patterns, oxygen and carbon dioxide levels in sleeping healthy infants during the first nine months after birth

Eva Horemuzova, Miriam Katz‐Salamon, J Milerad · Acta Paediatrica · 2000 · 41 citations

Medicine, Pediatrics, Physiology +16

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Zheng Wang, Eva Horemuzova, Aritoshi Iida et al. · Journal of Human Genetics · 2017 · 37 citations

Life Sciences, Genetics, Molecular Genetics +12

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by<i>PAPSS2</i>Mutations

Aritoshi Iida, Pelin Özlem Şimşek‐Kiper, Shuji Mizumoto et al. · Human Mutation · 2013 · 36 citations

Life Sciences, Genetics, Molecular Genetics +17