Detalhe da pesquisa
1.
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.
BMC Health Serv Res
; 23(1): 386, 2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085862
2.
Re-focusing on Agnathia-Otocephaly complex.
Clin Oral Investig
; 25(3): 1353-1362, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643087
3.
A transatlantic perspective on the integration of immuno-oncology prognostic and predictive biomarkers in innovative clinical trial design.
Semin Cancer Biol
; 52(Pt 2): 158-165, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29307568
4.
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Br J Dermatol
; 180(1): 172-180, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30141192
5.
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Br J Dermatol
; 180(6): 1438-1448, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417923
6.
RAS signalling in energy metabolism and rare human diseases.
Biochim Biophys Acta Bioenerg
; 1859(9): 845-867, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750912
7.
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Clin Genet
; 93(2): 374-377, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617965
8.
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Clin Genet
; 94(3-4): 373-380, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926465
9.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Clin Genet
; 94(1): 141-152, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574747
10.
AGC1/2, the mitochondrial aspartate-glutamate carriers.
Biochim Biophys Acta
; 1863(10): 2394-412, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132995
11.
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Clin Genet
; 92(3): 298-305, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28295206
12.
Fetal phenotypes in otopalatodigital spectrum disorders.
Clin Genet
; 89(3): 371-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26404489
13.
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
Am J Med Genet A
; 167A(11): 2714-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26114937
14.
RECURRENCE OF POMPE DISEASE IN FIRST COUSINS.
Genet Couns
; 26(2): 227-31, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26349193
15.
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Clin Genet
; 86(4): 326-34, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24033328
16.
Performance of multinomial designs in comparison with response-based designs in non-randomized phase II trials of targeted cancer agents.
Ann Oncol
; 24(7): 1936-1942, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23553058
17.
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
18.
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome.
Ultrasound Obstet Gynecol
; 51(3): 409-411, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28295764
19.
Anaesthesia and risk of cancer recurrence after surgery: a plea for a multidisciplinary vision.
Br J Anaesth
; 121(1): 104-105, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935556
20.
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Nat Genet
; 15(2): 157-64, 1997 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9020840