Detalhe da pesquisa
1.
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Brain
; 146(5): 1844-1858, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36314052
2.
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
Hum Mol Genet
; 28(14): 2378-2394, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090908
3.
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Clin Genet
; 100(1): 84-89, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33733462
4.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
5.
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.
Am J Med Genet A
; 182(5): 1230-1235, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022420
6.
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
BMC Genet
; 18(1): 3, 2017 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28103792
7.
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
BMC Med Genet
; 17(1): 42, 2016 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282200
8.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 136(2): 402-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724123
9.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
10.
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Am J Hum Genet
; 84(2): 259-65, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200527
11.
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
Am J Med Genet A
; 158A(5): 1185-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22489068
12.
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
J Peripher Nerv Syst
; 17(2): 141-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734899
13.
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
J Neuromuscul Dis
; 9(1): 193-210, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34602496
14.
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
Neurogenetics
; 12(1): 73-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20721593
15.
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Am J Med Genet A
; 155A(4): 880-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21416592
16.
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mol Syndromol
; 12(6): 342-350, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899143
17.
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Eur J Med Genet
; 62(11): 103576, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423442
18.
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient.
Am J Med Genet A
; 143A(15): 1782-7, 2007 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17618475
19.
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.
Neurol Genet
; 2(2): e61, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123480
20.
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
Mol Cytogenet
; 8: 39, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26082802