Detalhe da pesquisa
1.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
2.
"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.
BMC Pediatr
; 18(1): 6, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29334914
3.
Screening for non-alcoholic fatty liver disease in children and adolescents with type 1 diabetes mellitus: a cross-sectional analysis.
Eur J Pediatr
; 176(4): 529-536, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213828
4.
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.
Eur J Hum Genet
; 26(1): 137-142, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230040
5.
Severely impaired wound healing in a Fontan patient after neurosurgery: a novel topic in univentricular heart physiology?
Childs Nerv Syst
; 28(10): 1815-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22383164
6.
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.
Fam Cancer
; 16(3): 401-405, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896549
7.
Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis.
Dev Med Child Neurol
; 51(2): 159-61, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19191848
8.
Persistent right umbilical vein associated with complex congenital cardiac malformation.
Am J Perinatol
; 23(3): 181-2, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16586233
9.
Management of pneumatosis coli with free intraperitoneal gas mimicking abdominal hollow organ perforation in a 13-year-old patient following bone marrow transplantation.
Dig Dis Sci
; 48(8): 1542-4, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12924650