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1.
Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES).
Clin Mol Allergy
; 9: 14, 2011 Nov 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-22126402
2.
Kagami-Ogata Syndrome: Case Series and Review of Literature.
AJP Rep
; 11(2): e65-e75, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34055463
3.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
JAMA Pediatr
; 175(12): 1218-1226, 2021 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34570182
4.
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
Genet Med
; 12(9): 573-86, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20860070
5.
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Ophthalmic Genet
; 37(2): 217-27, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26331342
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