scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1034454916 |
P356 | DOI | 10.1038/EJHG.2010.5 |
P932 | PMC publication ID | 2987430 |
P698 | PubMed publication ID | 20125192 |
P5875 | ResearchGate publication ID | 41400198 |
P50 | author | Anita Rauch | Q21253643 |
P2093 | author name string | Koen Devriendt | |
Eberhard Schwinger | |||
Nicole Philip | |||
P2860 | cites work | Role of TBX1 in human del22q11.2 syndrome | Q24298685 |
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden | Q24675242 | ||
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements | Q33608641 | ||
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q | Q33622853 | ||
Prevalence of 22q11 microdeletion | Q33677732 | ||
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients | Q35249478 | ||
A population study of chromosome 22q11 deletions in infancy | Q35261188 | ||
The annual incidence of DiGeorge/velocardiofacial syndrome | Q41871255 | ||
22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment | Q44517952 | ||
P433 | issue | 9 | |
P921 | main subject | DiGeorge syndrome | Q525642 |
P304 | page(s) | 1039-1043 | |
P577 | publication date | 2010-02-03 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). | |
P478 | volume | 18 |
Q36988231 | 22q11.2 deletion syndrome |
Q37592803 | Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome |
Q37013092 | More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated |
Q38872392 | The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome |
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