Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH geneAleksander Jamsheer, Anna Latos‐Bieleńska, Tomasz Trzeciak et al.|Journal of Human Genetics|2016Cited by 23
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosisZofia Walencka, Anna Sowińska‐Seidler, Aleksander Jamsheer et al.|Ginekologia Polska|2016Cited by 2
A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locusAnna Sowińska‐Seidler, Aleksander Jamsheer, Anna Materna‐Kiryluk et al.|Frontiers in Molecular Biosciences|2023Cited by 2