Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
29924900 (PubMed )
Supplement: HUMU-39-1246-s001.pdf
N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.
Ogawa M et al.
Biochimica Et Biophysica Acta, 2015
Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.
Ogawa M et al.
World Journal of Biological Chemistry, 2014
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
Cohen I et al.
European Journal of Human Genetics : Ejhg, 2014
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Shaheen R et al.
American Journal of Human Genetics, 2013
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