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1.
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.
Pediatr Res
; 93(1): 110-117, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35963884
2.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30275510
3.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30190611
4.
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Am J Med Genet A
; 167A(8): 1747-57, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25944730
5.
A novel mutation in the POLE2 gene causing combined immunodeficiency.
J Allergy Clin Immunol
; 137(2): 635-638.e1, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26365386
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