Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37815931
2.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
N Engl J Med
; 385(14): 1292-1301, 2021 09 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34587386
3.
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 561(7722): E7, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29977062
4.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 557(7706): 564-569, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29769720
5.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31761294
6.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33131162
7.
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
Clin Genet
; 97(6): 915-919, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32112393
8.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
EMBO Mol Med
; 15(2): e16478, 2023 02 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36652330
9.
R-SPONDIN2+ mesenchymal cells form the bud tip progenitor niche during human lung development.
Dev Cell
; 57(13): 1598-1614.e8, 2022 07 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35679862
10.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Nat Genet
; 54(1): 62-72, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34903892
11.
R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors.
Elife
; 92020 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32324134
12.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
; 11(1): 595, 2020 01 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32001716
13.
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Nat Genet
; 54(6): 906, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35304595