Detalhe da pesquisa
1.
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Ultrasound Obstet Gynecol
; 59(4): 532-542, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34170046
2.
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.
J Eur Acad Dermatol Venereol
; 35(10): 2085-2090, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930231
3.
The epigenetic control of transposable elements and imprinted genes in newborns is affected by the mode of conception: ART versus spontaneous conception without underlying infertility.
Hum Reprod
; 33(2): 331-340, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237055
4.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet
; 90(6): 509-517, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060890
5.
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.
Br J Dermatol
; 185(6): 1247-1249, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184242
6.
Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
J Eur Acad Dermatol Venereol
; 35(10): e690-e693, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051131
7.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Clin Genet
; 84(6): 507-21, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23506379
8.
Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.
Andrology
; 5(2): 370-380, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187507