Search research articles
Contact Us
Filters
Showing results (41-50 of 45) with videos related to
Page
of 5
Sort By:
You have reached the last page of results.
This site can display upto 45 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Franziska Langhammer, Reza Maroofian, Rueda Badar, et al.
American Journal of Human Genetics
|
October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Nature Communications
|
February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 45) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 45 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Franziska Langhammer, Reza Maroofian, Rueda Badar, et al.
American Journal of Human Genetics
|
October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Nature Communications
|
February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Page
of 5