Detalhe da pesquisa
1.
Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.
J Pediatr Hematol Oncol
; 46(2): 106-111, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277627
2.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207470
3.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282788
4.
Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.
J Pediatr Endocrinol Metab
; 34(2): 267-271, 2021 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180037
5.
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
Semin Pediatr Neurol
; 19(4): 173-80, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23245550
6.
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.
J Pediatr Genet
; 1(2): 125-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625812
7.
Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy.
Int J Cardiol
; 167(5): e143-5, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23628297
8.
Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.
Am J Med Genet A
; 129A(3): 316-20, 2004 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15326636