| P50 | author | Janusz Limon | Q11720302 |
| | Jolanta Wierzba | Q58240485 |
| | Beata S Lipska-Ziętkiewicz | Q58377359 |
| | Maria M Sasiadek | Q58453905 |
| | Magdalena Koczkowska | Q87641075 |
| | Robert Smigiel | Q87708946 |
| | Mariola Iliszko | Q90722922 |
| P2093 | author name string | Iwona Kardaś | |
| | Magdalena Cabała | |
| | Ryszard Ślężak | |
| P2860 | cites work | BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 | Q21261511 |
| | Role of TBX1 in human del22q11.2 syndrome | Q24298685 |
| | Practical guidelines for managing patients with 22q11.2 deletion syndrome | Q28237543 |
| | Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies | Q28261842 |
| | A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH | Q28269168 |
| | Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 |
| | Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics | Q30391601 |
| | Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland | Q33763901 |
| | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. | Q34208328 |
| | Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome | Q34847296 |
| | Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). | Q41734111 |
| | Towards earlier diagnosis of 22q11 deletions | Q41769809 |
| | Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation | Q43136777 |
| | The impact of chromosomal microarray on clinical management: a retrospective analysis | Q50308309 |
| | Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. | Q50856798 |
| | Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. | Q51803890 |
| | Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. | Q54531000 |
| | Molecular and clinical characterization of patients with overlapping 10p deletions | Q56535694 |
| | A common region of 10p deleted in DiGeorge and velocardiofacial syndromes | Q57251931 |
| | No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585 | Q77416202 |
| | Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion | Q81003367 |
| | Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability | Q82622996 |
| | Regeneration of comparative genomic hybridization oligonucleotide microarrays with dimethylurea | Q83891208 |
| | Points to consider in the clinical application of genomic sequencing | Q84730858 |
| | Central 22q11.2 deletions | Q87578693 |
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 1 | |
| P304 | page(s) | 93-98 | |
| P577 | publication date | 2016-09-14 | |
| P1433 | published in | Journal of Applied Genetics | Q15767059 |
| P1476 | title | Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome | |
| P478 | volume | 58 | |