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Human Mutation
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November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome
Rabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Neurology Open Access
|
June 15, 2026
Retinal Vessel Dysfunction in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: An Ultra-Widefield Fluorescein Angiography Study
Yonatan Serlin, Colyn Munn, Elisa A Ferrante, et al.
The New England Journal of Medicine
|
December 29, 2016
Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas
Eva Dombi, Andrea Baldwin, Leigh J Marcus, et al.
Frontiers in Immunology
|
January 31, 2022
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
Karyl S Barron, Ivona Aksentijevich, Natalie T Deuitch, et al.
The Journal of Clinical Investigation
|
April 13, 2018
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
Gina A Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey, et al.
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of 4
Search research articles
Search
Showing results (31-40 of 35) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 35 results.
Human Mutation
|
November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome
Rabia Faridi, Risa Tona, Alessandra Brofferio, et al.
Neurology Open Access
|
June 15, 2026
Retinal Vessel Dysfunction in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: An Ultra-Widefield Fluorescein Angiography Study
Yonatan Serlin, Colyn Munn, Elisa A Ferrante, et al.
The New England Journal of Medicine
|
December 29, 2016
Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas
Eva Dombi, Andrea Baldwin, Leigh J Marcus, et al.
Frontiers in Immunology
|
January 31, 2022
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
Karyl S Barron, Ivona Aksentijevich, Natalie T Deuitch, et al.
The Journal of Clinical Investigation
|
April 13, 2018
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
Gina A Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey, et al.
Page
of 4