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1.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J Med Genet
; 60(6): 587-596, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36379543
2.
An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).
J Pediatr Endocrinol Metab
; 30(1): 97-100, 2017 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27935851
3.
Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications.
Orphanet J Rare Dis
; 11(1): 129, 2016 Sep 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-27680012
4.
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.
PLoS One
; 9(12): e115605, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25542043
5.
Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology.
Acta Diabetol
; 53(2): 337-8, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26123671
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