Published in Ophthalmic Genet on October 10, 2011
Gene expression and functional annotation of the human ciliary body epithelia. PLoS One (2012) 0.88
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. J Appl Genet (2013) 0.80
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma. PLoS One (2013) 0.76
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. PLoS One (2017) 0.75
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. BMC Med Genet (2010) 0.92
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet J Rare Dis (2014) 0.89
Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet (2013) 0.84
FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid. Horm Res Paediatr (2011) 0.84
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. Birth Defects Res A Clin Mol Teratol (2014) 0.83
Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A (2012) 0.81
MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med (2011) 0.79
[Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20]. Ginekol Pol (2013) 0.77
Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM). BMC Pediatr (2013) 0.75
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene. J Appl Genet (2014) 0.75
Impairment of antioxidant defenses as a contributor to arsenite-induced cell transformation. Biometals (2012) 0.75
[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]. Med Wieku Rozwoj (2007) 0.75
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report. Gynecol Endocrinol (2013) 0.75
Evaluation of deciduous-tooth wear in children living in the middle ages. Oral Health Prev Dent (2015) 0.75
Occurrence rate and genotype distribution of the JC virus (JCV) in a sample from the Polish population. J Med Virol (2008) 0.75
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. Ginekol Pol (2016) 0.75