Detalhe da pesquisa
1.
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.
Prenat Diagn
; 38(4): 258-266, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388226
2.
Malignant hyperthermia in a 4-year-old girl during anesthesia induction with sevoflurane and succinylcholine for congenital ptosis surgery.
Saudi J Ophthalmol
; 33(2): 183-187, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31384166
3.
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
Mol Syndromol
; 9(1): 22-24, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29456479
4.
SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
Cold Spring Harb Mol Case Stud
; 3(4)2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28679690
5.
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.
Eur J Med Genet
; 59(10): 499-501, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633572