Detalhe da pesquisa
1.
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
J Med Genet
; 53(3): 200-7, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26378117
2.
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
BMC Med Genet
; 17: 15, 2016 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-26922654
3.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ
; 188(11): E254-E260, 2016 Aug 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27241786
4.
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.
Neurol Genet
; 2(1): e38, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27066576
5.
The evaluation of pre and post processing semen analysis parameters at the time of intrauterine insemination in couples diagnosed with male factor infertility and pregnancy rates based on stimulation agent. A retrospective cohort study.
Eur J Obstet Gynecol Reprod Biol
; 179: 159-62, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24965998