Detalhe da pesquisa
1.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806792
2.
Eosinophilic esophagitis in children: current knowledge to open new horizons.
Scand J Gastroenterol
; 54(7): 822-829, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31535579
3.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Am J Med Genet A
; 170A(1): 162-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333654
4.
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Am J Med Genet A
; 167A(9): 2042-51, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940952
5.
Inflammatory Bowel Disease: Genetics, Epigenetics, and Pathogenesis.
Front Immunol
; 6: 551, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26579126
6.
Autoimmune liver disease in Noonan Syndrome.
Eur J Med Genet
; 58(3): 188-90, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595571
7.
Nonalcoholic Fatty liver disease/non-alcoholic steatohepatitis in childhood: endocrine-metabolic "mal-programming".
Hepat Mon
; 14(5): e17641, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24829591
8.
Partially hydrolyzed guar gum in pediatric functional abdominal pain.
World J Gastroenterol
; 19(2): 235-40, 2013 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23345946
9.
Proton pump inhibitors in pediatrics: evaluation of efficacy in GERD therapy.
Curr Clin Pharmacol
; 6(1): 41-7, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21235462