Detalhe da pesquisa
1.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
2.
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
J Neurol Neurosurg Psychiatry
; 83(10): 956-62, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832740
3.
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
Eur Respir J
; 43(2): 638-41, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136335
4.
Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.
Int J Pediatr Otorhinolaryngol
; 112: 1-5, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055715
5.
A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress.
Turk J Pediatr
; 59(4): 483-486, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624232
6.
The IL-4 rs2070874 polymorphism may be associated with the severity of recurrent viral-induced wheeze.
Pediatr Pulmonol
; 52(11): 1435-1442, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28950434
7.
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Respir Med
; 129: 16-23, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28732825
8.
Benign hereditary chorea, not only chorea: a family case presentation.
Cerebellum Ataxias
; 3: 3, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26839702
9.
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
Int J Pediatr Otorhinolaryngol
; 87: 28-33, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27368438
10.
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
PLoS One
; 11(9): e0161893, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27583663
11.
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
Mol Genet Genomic Med
; 3(3): 189-96, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26029705
12.
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
PLoS One
; 10(3): e0120584, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25798947
13.
Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Pediatr Pulmonol
; 49(3): E112-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24347240
14.
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
Orphanet J Rare Dis
; 9: 55, 2014 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24741995
15.
Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Orphanet J Rare Dis
; 9: 85, 2014 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24927752
16.
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
PLoS One
; 9(6): e99797, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24926664
17.
Discovery of a large deletion of KAL1 in 2 deaf brothers.
Otol Neurotol
; 34(9): 1590-4, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24232061
18.
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
Eur J Med Genet
; 55(1): 56-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21888995
19.
Next generation sequencing: the technology we need in pediatric laboratories?
Clin Biochem
; 44(7): 514-515, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036354