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Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review

Therapeutic Advances in Chronic Disease, 2019, Vol.10, p.2040622318821622-2040622318821622

2019

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One year effect of tezacaftor and ivacaftor on functional exercise capacity and muscle strength in people with cystic fibrosis

Heliyon, 2024-03, Vol.10 (5), p.e26729-e26729, Article e26729

2024

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Screening for sleep‐disordered breathing with Pediatric Sleep Questionnaire in children with underlying conditions

Journal of sleep research, 2019-10, Vol.28 (5), p.e12826-n/a

2019

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Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire

Muscle & nerve, 2021-09, Vol.64 (3), p.277-284

2021

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Distinct neurological disorders with ATP1A3 mutations

Lancet neurology, 2014-05, Vol.13 (5), p.503-514

2014

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An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter

The European respiratory journal, 2020-10, Vol.56 (4), p.2000006

2020

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Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

Genetics in medicine, 2013-01, Vol.15 (1), p.55-63

2013

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Another Cause of Hyperglyceroluria

Journal of pediatric gastroenterology and nutrition, 2013-09, Vol.57 (3), p.e19-e19

2013

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Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

Journal of proteomics, 2013-06, Vol.86, p.53-69

2013

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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1349-1355

2013

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Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report

Frontiers in pediatrics, 2020, Vol.8, p.605143-605143

2020

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Drug resistance in HIV-infected children living in rural South Africa: Implications of an antiretroviral therapy initiated during the first year of life

Journal of clinical virology, 2020-08, Vol.129, p.104547-104547, Article 104547

2020

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Effectiveness of the South African expanded program of immunization against hepatitis B in children infected with human immunodeficiency virus‐1 living in a resource‐limited setting of Kwazulu‐Natal

Journal of medical virology, 2017-01, Vol.89 (1), p.182-185

2017

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The changing epidemiology of hepatitis C virus (HCV) infection in haemodialysis: European multicentre study

Nephrology, dialysis, transplantation, 2004-04, Vol.19 (4), p.904-909

2004

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Virological and Immunological Long-Term Outcome of Human Immunodeficiency Virus-1 Infected Children Treated before One Year and after Two Years of Age in a Resource-Limited Setting of South Africa

Journal of AIDS & clinical research, 2017, Vol.8 (5)

2017

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Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review

One year effect of tezacaftor and ivacaftor on functional exercise capacity and muscle strength in people with cystic fibrosis

Screening for sleep‐disordered breathing with Pediatric Sleep Questionnaire in children with underlying conditions

Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire

Distinct neurological disorders with ATP1A3 mutations

An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

Another Cause of Hyperglyceroluria

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report

Drug resistance in HIV-infected children living in rural South Africa: Implications of an antiretroviral therapy initiated during the first year of life

Effectiveness of the South African expanded program of immunization against hepatitis B in children infected with human immunodeficiency virus‐1 living in a resource‐limited setting of Kwazulu‐Natal

The changing epidemiology of hepatitis C virus (HCV) infection in haemodialysis: European multicentre study

Virological and Immunological Long-Term Outcome of Human Immunodeficiency Virus-1 Infected Children Treated before One Year and after Two Years of Age in a Resource-Limited Setting of South Africa

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