Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in <i>ADNP</i> geneMałgorzata Krajewska‐Walasek, Elżbieta Ciara, Dorota Jurkiewicz et al.|American Journal of Medical Genetics Part A|2016Cited by 34
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variantAleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Marzena Kucharczyk et al.|Biomedical Papers|2016Cited by 20
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromesAleksandra Jezela‐Stanek, Tomasz Żemojtel, Elżbieta Ciara et al.|Molecular Genetics & Genomic Medicine|2020Cited by 18
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease PhenotypeVictor Murcia Pienkowski, Rafał Płoski, Karolina Matuszewska et al.|Journal of Clinical Medicine|2020Cited by 9
History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Marzena Kucharczyk et al.|Clinical Dysmorphology|2011Cited by 6