Detalhe da pesquisa
1.
Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.
Eur Respir J
; 57(1)2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747394
2.
Functional parameter measurements in children with ataxia telangiectasia.
Dev Med Child Neurol
; 62(2): 207-213, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31468510
3.
Advanced Lung Disease in Patients with Cystic Fibrosis Is Associated with Low Diffusion capacity.
Isr Med Assoc J
; 22(12): 770-774, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381950
4.
Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study.
J Pediatr Gastroenterol Nutr
; 68(3): 422-427, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334929
5.
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.
BMC Pediatr
; 18(1): 185, 2018 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29866155
6.
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort.
Pediatr Res
; 79(6): 889-94, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26891003
7.
Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.
J Pediatr Gastroenterol Nutr
; 62(4): 550-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26594831
8.
Cough ability measurements and recurrent respiratory symptoms in individuals with Ataxia Telangiectasia.
J Asthma
; 53(1): 37-42, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26364772
9.
Nocardia Colonization: A Risk Factor for Lung Deterioration in Cystic Fibrosis Patients?
Med Sci Monit
; 21: 1889-94, 2015 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26125407
10.
Genotoxicity associated with retroviral CAR transduction of ATM-deficient T cells.
Blood Cancer Discov
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747501
11.
Progressive flow-to-volume dysanapsis in cystic fibrosis: a predictor for lung transplantation?
Am J Respir Crit Care Med
; 186(1): 82-7, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22538801
12.
Clinical and functional efficacy of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis carrying the N1303K mutation.
J Cyst Fibros
; 22(6): 1062-1069, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331863
13.
Acute meningitis among infants and toddlers with febrile seizures: time for a reappraisal of the value of a lumbar puncture.
Isr Med Assoc J
; 14(9): 547-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23101417
14.
Spontaneous pneumothorax-When do we need to intervene?
Clin Respir J
; 15(9): 967-972, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998780
15.
Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108.
Diagnostics (Basel)
; 10(7)2020 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32674526
16.
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings.
Diagnostics (Basel)
; 10(2)2020 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32079294
17.
Phenotypic and molecular characteristics of CF patients carrying the I1234V mutation.
Respir Med
; 170: 106027, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843167
18.
Failure to conceive in women with CF is associated with pancreatic insufficiency and advancing age.
J Cyst Fibros
; 18(4): 525-529, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30366850
19.
The Value of Measuring Inspiratory Capacity in Subjects With Cystic Fibrosis.
Respir Care
; 63(8): 981-987, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30018173
20.
Secondary enuresis and urological manifestations in children with ataxia telangiectasia.
Eur J Paediatr Neurol
; 22(6): 1118-1123, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100180