Detalhe da pesquisa
1.
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
2.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
3.
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
4.
Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.
Birth Defects Res A Clin Mol Teratol
; 106(3): 178-84, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690971
5.
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.
Cytogenet Genome Res
; 146(1): 28-32, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26201711
6.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820807
7.
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Am J Med Genet A
; 176(11): 2509-2512, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244529
8.
Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.
Birth Defects Res A Clin Mol Teratol
; 97(12): 806-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24343879
9.
Time-course changes of muscle protein synthesis associated with obesity-induced lipotoxicity.
J Physiol
; 590(20): 5199-210, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22802586
10.
Does long-term intermittent treatment with glutamine improve the well-being of fed and fasted very old rats?
JPEN J Parenter Enteral Nutr
; 31(6): 456-62, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17947599
11.
Immune-mediated myopathy related to anti 3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies as an emerging cause of necrotizing myopathy induced by statins.
Joint Bone Spine
; 81(1): 79-82, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23953224
12.
Glutamate and CO2 production from glutamine in incubated enterocytes of adult and very old rats.
J Nutr Biochem
; 24(4): 688-92, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22898569
13.
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Am J Hum Genet
; 81(1): 170-9, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17564974