Search research articles
Contact Us
Filters
Showing results (11-20 of 15) with videos related to
Page
of 2
Sort By:
You have reached the last page of results.
This site can display upto 15 results.
Nature Genetics
|
May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Adam Jackson, Nishi Thaker, Alexander Blakes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
Jessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Heba Morsy, Mehdi Benkirane, Elisa Cali, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Cali, Mohnish Suri, Marcello Scala, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Nature Genetics
|
May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Adam Jackson, Nishi Thaker, Alexander Blakes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
Jessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Heba Morsy, Mehdi Benkirane, Elisa Cali, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Cali, Mohnish Suri, Marcello Scala, et al.
Page
of 2