Search details
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37071997
2.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35101335
3.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Article
in English
| MEDLINE | ID: mdl-38355961
4.
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.
Eur J Med Genet
; 66(3): 104706, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36669590
5.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38565641
Results
1 -
5
de 5
1
Next >
>>