Detalhe da pesquisa
1.
Long-term burden of informal caregiver 7-years after severe childhood traumatic brain injury in the traumatisme grave de l'Enfant (TGE) study.
Brain Inj
; 38(6): 467-478, 2024 May 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38379310
2.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat
; 42(4): 373-377, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33492714
3.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34037256
4.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 508(7496): 345-50, 2014 Apr 17.
Artigo
Inglês
| MEDLINE | ID: mdl-24740065
5.
Self- and parent-reported Quality of Life 7 years after severe childhood traumatic brain injury in the Traumatisme Grave de l'Enfant cohort: associations with objective and subjective factors and outcomes.
Qual Life Res
; 29(2): 515-528, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31549364
6.
Self- and Parent-Reported Fatigue 7 Years After Severe Childhood Traumatic Brain Injury: Results of the Traumatisme Grave de l'Enfant Prospective Longitudinal Study.
J Head Trauma Rehabil
; 35(2): 104-116, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31246880
7.
Language, intellectual and educational outcomes after moderate-to-severe traumatic brain injury sustained before the age of 18 months.
Brain Inj
; 33(8): 1105-1115, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31165657
8.
Assessment of memory functioning over two years following severe childhood traumatic brain injury: results of the TGE cohort.
Brain Inj
; 33(9): 1208-1218, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31237456
9.
Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 531(7594): 400, 2016 Mar 17.
Artigo
Inglês
| MEDLINE | ID: mdl-26633627
10.
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
PLoS Genet
; 10(5): e1004340, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24784881
11.
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
Blood
; 122(4): 554-61, 2013 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-23733339
12.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25044680
13.
Behavior problems 7 years after severe childhood traumatic brain injury: Results of the Traumatisme Grave de L'Enfant study.
Rehabil Psychol
; 2024 Apr 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38647452
14.
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.
Retrovirology
; 10: 20, 2013 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23414560
15.
Flawed Swedish study on traumatic shaking is already being used by defence lawyers and its findings must be ignored.
Acta Paediatr
; 107(12): 2048-2050, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30178625
16.
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.
Hum Mutat
; 33(6): 998-1009, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22473970
17.
Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.
Ann Neurol
; 70(4): 627-33, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22028222
18.
Weight gain after childhood traumatic brain injury: a matter of concern.
Dev Med Child Neurol
; 54(7): 624-8, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22524689
19.
Shaken Baby Syndrome (SBS) or Pediatric Abusive Head Trauma from Shaking: Guidelines for Interventions During the Perinatal Period from the French National College Of Midwives.
J Midwifery Womens Health
; 67 Suppl 1: S93-S98, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36480666
20.
Functional status 1 year after severe childhood traumatic brain injury predicts 7-year outcome: Results of the TGE study.
Ann Phys Rehabil Med
; 65(5): 101627, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34986401