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European Journal of Medical Genetics
|
July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
Sebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
The Journal of Experimental Medicine
|
June 7, 2022
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, et al.
Neurology
|
May 10, 2019
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>
Giulia Coarelli, Rebecca Schule, Bart P C van de Warrenburg, et al.
International Journal of Molecular Sciences
|
September 9, 2023
Genetic Architecture of Ischaemic Strokes after COVID-19 Shows Similarities with Large Vessel Strokes
Laia Llucià-Carol, Elena Muiño, Natalia Cullell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 19, 2019
A clinical scoring system for congenital contractural arachnodactyly
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 24, 2021
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
Tomoko Nakanishi, Sara Pigazzini, Frauke Degenhardt, et al.
The Journal of Clinical Investigation
|
October 1, 2021
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
Tomoko Nakanishi, Sara Pigazzini, Frauke Degenhardt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Martina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Genome Medicine
|
April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
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of 5
Search research articles
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Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
European Journal of Medical Genetics
|
July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
Sebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
The Journal of Experimental Medicine
|
June 7, 2022
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, et al.
Neurology
|
May 10, 2019
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>
Giulia Coarelli, Rebecca Schule, Bart P C van de Warrenburg, et al.
International Journal of Molecular Sciences
|
September 9, 2023
Genetic Architecture of Ischaemic Strokes after COVID-19 Shows Similarities with Large Vessel Strokes
Laia Llucià-Carol, Elena Muiño, Natalia Cullell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 19, 2019
A clinical scoring system for congenital contractural arachnodactyly
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 24, 2021
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
Tomoko Nakanishi, Sara Pigazzini, Frauke Degenhardt, et al.
The Journal of Clinical Investigation
|
October 1, 2021
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
Tomoko Nakanishi, Sara Pigazzini, Frauke Degenhardt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Martina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Genome Medicine
|
April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
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of 5