| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.33575 |
| P953 | full work available at URL | https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33575 |
| https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33575 | ||
| P698 | PubMed publication ID | 20684000 |
| P50 | author | Fowzan S Alkuraya | Q66753922 |
| P2860 | cites work | Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience | Q36930117 |
| Role of the dysmorphologic evaluation in the child with developmental delay | Q37301454 | ||
| Confirmation of the Cohen syndrome | Q44157022 | ||
| X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations | Q45345060 | ||
| Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. | Q52180232 | ||
| Rubinstein-Taybi syndrome. | Q55042248 | ||
| Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example | Q83471137 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | recessive genes | Q67200839 |
| P304 | page(s) | 2160-2163 | |
| P577 | publication date | 2010-09-01 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity | |
| Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity | |||
| P478 | volume | 152A |
| Q40245576 | Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort |
| Q45316541 | Defective MGAT2 causes CDG-2a |
| Q50289221 | Defective MGAT2 does not transfer GlcNAc to N-glycans |
| Q34000892 | Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. |
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