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Ute Grasshoff

Showing results (41-50 of 45) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska 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 lossElodie 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 syndromePleuntje 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 syndromePleuntje 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 ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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Showing results (41-50 of 45) with videos related to

Sort By:
Pageof 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 disordersFranziska 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 lossElodie 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 syndromePleuntje 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 syndromePleuntje 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 ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 5