Detalhe da pesquisa
1.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Nat Immunol;
17(5): 495-504, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27019227
2.
Pulmonary function tests for evaluating the severity of Duchenne muscular dystrophy disease.
Acta Paediatr;
112(4): 854-860, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36596294
3.
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Am J Hum Genet;
102(5): 973-984, 2018 05 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29727693
4.
Efficacy of Problem-Solving Intervention to Improve Adherence in Adolescents and Adults with Cystic Fibrosis.
Isr Med Assoc J;
23(9): 584-589, 2021 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34472235
5.
Lung transplantation in cystic fibrosis patients in Israel: The importance of ethnicity and nutritional status.
Clin Transplant;
31(11)2017 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28886227
6.
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Hum Mutat;
37(8): 727-31, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27060491
7.
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Hum Mutat;
37(4): 396-405, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26777464
8.
Cardiopulmonary exercise testing in adolescence following extremely premature birth.
Pediatr Pulmonol;
59(4): 997-1005, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38240499
9.
Maternal and fetal outcomes in multiparous women with Cystic Fibrosis.
Respir Med;
228: 107654, 2024 May 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38735372
10.
Evaluation of sputum cultures in children with spinal Muscular atrophy.
Respir Med;
209: 107143, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36764497
11.
The association between Attention-Deficit-Hyperactivity-Disorder (ADHD) symptoms and disease severity in people with Cystic Fibrosis (pwCF).
J Cyst Fibros;
22(4): 772-776, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37061352
12.
Reversible Bronchial Obstruction in Primary Ciliary Dyskinesia.
J Clin Med;
11(22)2022 Nov 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36431268
13.
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Am J Hum Genet;
83(5): 547-58, 2008 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18950741
14.
Risk factors for respiratory syncytial virus bronchiolitis hospitalizations in children with chronic diseases.
Pediatr Pulmonol;
56(7): 2204-2211, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33913611
15.
International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives.
ERJ Open Res;
7(3)2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34350277
16.
Baseline Cystic fibrosis disease severity has an adverse impact on pregnancy and infant outcomes, but does not impact disease progression.
J Cyst Fibros;
20(3): 388-394, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32917549
17.
Evidence of intestinal inflammation in patients with cystic fibrosis.
J Pediatr Gastroenterol Nutr;
51(3): 304-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20512061
18.
Impact of a national population-based carrier-screening program on spinal muscular atrophy births.
Neuromuscul Disord;
30(12): 970-974, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33218846
19.
Diagnostic value of sputum cultures in children under 2 years of age with chronic suppurative lung diseases.
Pediatr Pulmonol;
55(12): 3421-3428, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33006230
20.
Palivizumab Following Extremely Premature Birth Does Not Affect Pulmonary Outcomes in Adolescence.
Chest;
158(2): 660-669, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32298728