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Nature Medicine
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January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
American Journal of Human Genetics
|
February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
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Search research articles
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Showing results (61-70 of 63) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 63 results.
Nature Medicine
|
January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Wouter Steyaert, Elke de Boer, et al.
American Journal of Human Genetics
|
February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Page
of 7