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1.
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Eur J Pediatr
; 175(4): 587-92, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26518681
2.
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Neuro Endocrinol Lett
; 37(4): 269-276, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27857042
3.
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
Ital J Pediatr
; 49(1): 11, 2023 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658659
4.
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Front Physiol
; 8: 730, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28974934
5.
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Front Physiol
; 8: 400, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28659821
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