| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | Natario Couser | Q57429274 |
| Colleen Jackson-Cook | Q91448383 | ||
| Cybil S Stingl | Q94563222 | ||
| P2860 | cites work | Association between microdeletion and microduplication at 16p11.2 and autism | Q28264205 |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
| Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size | Q29544005 | ||
| Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes | Q34537392 | ||
| Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. | Q53303831 | ||
| Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature | Q59395258 | ||
| Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. | Q80808717 | ||
| Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. | Q82479040 | ||
| The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? | Q83782772 | ||
| The copy number variation landscape of congenital anomalies of the kidney and urinary tract | Q90712113 | ||
| Recurrent 16p11.2 microdeletions in autism | Q34729775 | ||
| KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome | Q35751744 | ||
| ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion | Q36134771 | ||
| Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude | Q37045372 | ||
| 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems | Q38275896 | ||
| An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. | Q41957116 | ||
| Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. | Q42117831 | ||
| Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother | Q42538888 | ||
| Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations | Q43074796 | ||
| Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder | Q44735745 | ||
| A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. | Q50306563 | ||
| Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. | Q50341332 | ||
| Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. | Q51928355 | ||
| 16p11.2 microdeletion syndrome: a case report. | Q52612452 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | microdeletion syndrome | Q10329580 |
| P304 | page(s) | 2031701 | |
| P577 | publication date | 2020-04-20 | |
| P1433 | published in | Case reports in pediatrics | Q27724120 |
| P1476 | title | Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review | |
| P478 | volume | 2020 |
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