Detalhe da pesquisa
1.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33398909
2.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24556213
3.
Spleen nodules: a potential hallmark of Visceral Leishmaniasis in young children.
BMC Infect Dis
; 14: 620, 2014 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-25496484
4.
Developmental syndromes: growth hormone deficiency and treatment.
Endocr Dev
; 14: 114-34, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19293579
5.
Acute mastoiditis in an Italian pediatric tertiary medical center: a 15 - year retrospective study.
Ital J Pediatr
; 44(1): 71, 2018 Jun 18.
Artigo
Inglês
| MEDLINE | ID: mdl-29914542
6.
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea.
Front Pediatr
; 6: 213, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30109220
7.
Vitamin A Deficiency Due to Selective Eating as a Cause of Blindness in a High-Income Setting.
Pediatrics
; 141(Suppl 5): S439-S444, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29610168
8.
Posterior reversible encephalopathy syndrome associated with licorice consumption: a case report in a 10-year-old boy.
Pediatr Neurol
; 52(4): 457-9, 2015 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25680999
9.
Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect.
Eur J Endocrinol
; 151(5): 567-72, 2004 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-15538934
10.
Posterior Reversible Encephalopathy Syndrome Associated With Licorice Consumption: A Case Report in a 10-Year-Old Boy. Pediatric Neurology 2015;52(4):457-459.
Pediatr Neurol
; 58: 118, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27268763
11.
Lymphocyte TRPV 1-4 gene expression and MIF blood levels in a young girl clinically diagnosed with HSAN IV.
Clin J Pain
; 27(7): 631-4, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21436684
12.
Sensory phenotype assessment in a young girl affected by congenital insensitivity to pain (CIPA).
Paediatr Anaesth
; 17(11): 1105-10, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17897279
13.
Turner syndrome, insulin sensitivity and growth hormone treatment.
Horm Res
; 64 Suppl 3: 51-7, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16439845
14.
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
Am J Med Genet A
; 135(2): 150-4, 2005 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15880570
15.
Noonan-like syndrome with loose anagen hair: a new syndrome?
Am J Med Genet A
; 118A(3): 279-86, 2003 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-12673660