Detalhe da pesquisa
1.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24319099
2.
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Acta Neuropathol Commun
; 6(1): 109, 2018 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-30340542
3.
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Clin Chim Acta
; 481: 1-8, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29476731
4.
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
J Neuropathol Exp Neurol
; 75(3): 227-38, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26865159
5.
[The nutrition of the newborn en neonatal medicine]. / L'alimentation du nouveau-né en médecine néonatale.
Soins Pediatr Pueric
; (226): 34-6, 2005 Oct.
Artigo
Francês
| MEDLINE | ID: mdl-16305035