Detalhe da pesquisa
1.
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Clin Genet
; 104(5): 587-592, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37431644
2.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
3.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
4.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100091
5.
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
em Inglês
| MEDLINE | ID: mdl-24319099
6.
Impact of SARS-CoV-2 Infection on Unvaccinated Pregnant Women: Non-Reassuring Fetal Heart Rate Tracing Because of Placentitis.
Viruses
; 15(5)2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243156
7.
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
Am J Med Genet A
; 136A(4): 373-6, 2005 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15988748