Detalhe da pesquisa
1.
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Hum Mutat
; 38(10): 1360-1364, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28639312
2.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Am J Med Genet A
; 170(6): 1556-63, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940150
3.
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.
Am J Med Genet A
; 167A(12): 3153-60, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333682
4.
Will the implementation of the 2007 National Institute for Health and Clinical Excellence (NICE) guidelines on childhood urinary tract infection (UTI) in the UK miss significant urinary tract pathology?
BJU Int
; 110(3): 454-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22145915
5.
Fracture through the apex of a delta tibia (minor tibial duplication) following minor injury.
Pediatr Radiol
; 42(6): 753-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22037983
6.
Bilateral acromial fractures in a neonate with epileptic encephalopathy.
Pediatr Radiol
; 41(6): 788-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21229351
7.
Congenital syphilis presenting with liver lesions.
Int J STD AIDS
; 30(1): 82-85, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114994
8.
Sonographic evaluation of inflammatory bowel disease: a prospective, blinded, comparative study.
Pediatr Radiol
; 36(9): 947-53, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845511
9.
Renal calculus at presentation in a child with Crohn's disease.
Pediatr Radiol
; 33(4): 250-2, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12709754
10.
Radiograph evaluation in children with acute hip pain.
J Pediatr Orthop
; 22(3): 342-4, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11961451
11.
Bilateral multicystic kidneys--an unusual case.
Pediatr Nephrol
; 17(11): 964-5, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12432443
12.
Crohn's disease post-cardiac transplantation presenting with severe growth failure and delayed onset of puberty.
Pediatr Allergy Immunol
; 15(2): 186-9, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15059198