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Filippo Pinto E Vairo

Showing results (1-10 of 94) with videos related to

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Journal of Hepatology|April 20, 2019
Individualized medicine comes to the liver clinicFilippo Pinto E Vairo, Konstantinos N Lazaridis
Journal of Community Genetics|December 13, 2024
Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutionsGraziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, et al.
Frontiers in Medicine|May 30, 2023
Editorial: Advances in chronic kidney disease diagnosis and therapyHamad Ali, Filippo Pinto E Vairo, Ali AlSahow, et al.
Acta Neuropathologica Communications|October 26, 2018
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander diseaseFilippo Pinto E Vairo, Nicole Bertsch, Eric W Klee, et al.
BMC Medical Genetics|November 10, 2020
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case reportLaura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto E Vairo, et al.
European Journal of Medical Genetics|May 15, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotypeRodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, et al.
Neuromuscular Disorders : NMD|February 7, 2026
MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature reviewRishi Sharma, Lisa A Schimmenti, Benn Smith, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
<i>GBA1</i> variants in Brazilian Gaucher disease patientsSuelen Porto Basgalupp, Vivian Altmann, Filippo Pinto E Vairo, et al.
Rheumatology (Oxford, England)|January 30, 2021
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)Filippo Pinto E Vairo, Matthew J Koster, Jennifer L Kemppainen, et al.
Kidney International|July 23, 2021
Establishing a nephrology genetic clinicFilippo Pinto E Vairo, Jennifer L Kemppainen, John C Lieske, et al.
Pageof 10

Showing results (1-10 of 94) with videos related to

Sort By:
Pageof 10
Journal of Hepatology|April 20, 2019
Individualized medicine comes to the liver clinicFilippo Pinto E Vairo, Konstantinos N Lazaridis
Journal of Community Genetics|December 13, 2024
Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutionsGraziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, et al.
Frontiers in Medicine|May 30, 2023
Editorial: Advances in chronic kidney disease diagnosis and therapyHamad Ali, Filippo Pinto E Vairo, Ali AlSahow, et al.
Acta Neuropathologica Communications|October 26, 2018
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander diseaseFilippo Pinto E Vairo, Nicole Bertsch, Eric W Klee, et al.
BMC Medical Genetics|November 10, 2020
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case reportLaura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto E Vairo, et al.
European Journal of Medical Genetics|May 15, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotypeRodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, et al.
Neuromuscular Disorders : NMD|February 7, 2026
MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature reviewRishi Sharma, Lisa A Schimmenti, Benn Smith, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
<i>GBA1</i> variants in Brazilian Gaucher disease patientsSuelen Porto Basgalupp, Vivian Altmann, Filippo Pinto E Vairo, et al.
Rheumatology (Oxford, England)|January 30, 2021
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)Filippo Pinto E Vairo, Matthew J Koster, Jennifer L Kemppainen, et al.
Kidney International|July 23, 2021
Establishing a nephrology genetic clinicFilippo Pinto E Vairo, Jennifer L Kemppainen, John C Lieske, et al.
Pageof 10