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Adams-Oliver syndrom > Publikace

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

http://www.cell.com/ajhg/fulltext/S0002-9297(11)00154-6
podle Laura
Vědecký pracovník

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22795/abstract
podle Laura
Vědecký pracovník

Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies

http://circgenetics.ahajournals.org/content/8/4/572.long
podle Laura
Vědecký pracovník

Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome

http://www.cell.com/ajhg/fulltext/S0002-9297(15)00291-8
podle Laura
Vědecký pracovník

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

https://www.ncbi.nlm.nih.gov/pubmed/29924900
podle Laura
Vědecký pracovník

Current opinion in the molecular genetics of Adams-Oliver syndrome

https://doi.org/10.1080/21678707.2019.1559049
podle Laura
Vědecký pracovník