Detalhe da pesquisa
1.
Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome.
J Intellect Disabil Res
; 65(8): 795-800, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880800
2.
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Clin Genet
; 93(3): 703-706, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095483
3.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Clin Genet
; 87(3): 244-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635570
4.
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
5.
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Nat Genet
; 28(4): 365-70, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11479539
6.
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Clin Genet
; 82(5): 489-93, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21906047
7.
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.
J Intellect Disabil Res
; 56(4): 415-20, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954873
8.
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Hum Genet
; 127(5): 583-93, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177705
9.
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Clin Genet
; 77(3): 266-72, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20447141
10.
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
J Med Genet
; 46(4): 233-41, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19088120
11.
Feeding problems and gastrointestinal diseases in Down syndrome.
Arch Pediatr
; 27(1): 53-60, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784293
12.
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.
Neurogenetics
; 9(4): 287-93, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18688663
13.
Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.
Haemophilia
; 14(4): 709-16, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18479430
14.
International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.
J Inherit Metab Dis
; 31 Suppl 2: S441-6, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19016345
15.
[Mirror hand deformity: a new phenotype with literature review]. / Main en miroir: une nouvelle forme avec revue de la littérature.
Rev Chir Orthop Reparatrice Appar Mot
; 94(2): 174-8, 2008 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-18420062
16.
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
J Med Genet
; 43(3): 238-43, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15994862
17.
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
J Med Genet
; 43(2): 148-52, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15964893
18.
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
Hum Mutat
; 25(1): 56-63, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15580563
19.
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
J Med Genet
; 39(10): 714-7, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12362026
20.
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
J Med Genet
; 39(10): 722-33, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12362029