Detalhe da pesquisa
1.
Non-mosaic trisomy 22 and congenital heart surgery using the shared decision making model: a case report.
BMC Pediatr;
23(1): 122, 2023 03 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36932325
2.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med;
22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31607746
3.
ALG11-CDG syndrome: Expanding the phenotype.
Am J Med Genet A;
179(3): 498-502, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30676690
4.
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.
Am J Med Genet A;
173(6): 1663-1667, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28256045
5.
Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.
Am J Med Genet A;
164A(7): 1761-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24677774
6.
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.
Genet Med;
15(1): 79-83, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22918513
7.
A p53-independent role of Mdm2 in estrogen-mediated activation of breast cancer cell proliferation.
Breast Cancer Res;
13(1): R3, 2011 Jan 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21223569
8.
An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses.
Am J Med Genet A;
155A(4): 748-56, 2011 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21594997
9.
Colorectal Cancer Incidence Among Young Adults in California.
J Adolesc Young Adult Oncol;
3(4): 176-184, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25538862
10.
Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time.
Pediatr Pulmonol;
49(3): E103-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24535988