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Human Mutation
|
March 12, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
Roberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, et al.
Frontiers in Medicine
|
October 13, 2022
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
Matilde Bandeira, Federica Di Cianni, Diana Marinello, et al.
Orphanet Journal of Rare Diseases
|
March 31, 2026
Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needs
Matilde Bandeira, Diana Marinello, Sofia C Barreira, et al.
Human Genetics
|
April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Maria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Breast (Edinburgh, Scotland)
|
November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Journal of Translational Autoimmunity
|
January 1, 2024
Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study
Chiara Tani, Chiara Cardelli, Roberto Depascale, et al.
Annals of Neurology
|
March 11, 2011
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
Alexis Elbaz, Owen A Ross, John P A Ioannidis, et al.
Nature Reviews. Rheumatology
|
October 6, 2022
Publisher Correction: The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, et al.
Nature Reviews. Rheumatology
|
January 7, 2021
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, et al.
Neurobiology of Aging
|
August 22, 2013
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
Michael G Heckman, Alexis Elbaz, Alexandra I Soto-Ortolaza, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Human Mutation
|
March 12, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
Roberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, et al.
Frontiers in Medicine
|
October 13, 2022
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
Matilde Bandeira, Federica Di Cianni, Diana Marinello, et al.
Orphanet Journal of Rare Diseases
|
March 31, 2026
Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needs
Matilde Bandeira, Diana Marinello, Sofia C Barreira, et al.
Human Genetics
|
April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Maria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Breast (Edinburgh, Scotland)
|
November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Journal of Translational Autoimmunity
|
January 1, 2024
Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study
Chiara Tani, Chiara Cardelli, Roberto Depascale, et al.
Annals of Neurology
|
March 11, 2011
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
Alexis Elbaz, Owen A Ross, John P A Ioannidis, et al.
Nature Reviews. Rheumatology
|
October 6, 2022
Publisher Correction: The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, et al.
Nature Reviews. Rheumatology
|
January 7, 2021
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET
Rosaria Talarico, Silvia Aguilera, Tobias Alexander, et al.
Neurobiology of Aging
|
August 22, 2013
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
Michael G Heckman, Alexis Elbaz, Alexandra I Soto-Ortolaza, et al.
Page
of 6