Detalhe da pesquisa
1.
Pediatric thermal epiglottitis: insights from a tertiary center experience.
Eur J Pediatr
; 2024 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38613577
2.
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.
J Physiol
; 593(24): 5299-312, 2015 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26486891
3.
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
Am J Hum Genet
; 88(5): 599-607, 2011 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-21496787
4.
Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations.
Arch Dis Child
; 109(5): 428-431, 2024 Apr 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38296613
5.
Nonattendance in pediatric pulmonary clinics: an ambulatory survey.
BMC Pulm Med
; 9: 12, 2009 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-19366453
6.
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Mol Genet Genomic Med
; 5(3): 223-236, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28546993
7.
The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
J Cyst Fibros
; 15(4): 460-6, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26386752
8.
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Respir Med
; 119: 41-47, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27692146
9.
Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.
F1000Res
; 5: 2031, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27781089
10.
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.
Horm Res Paediatr
; 81(5): 336-42, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24714577