Search details
1.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38135915
2.
Expanding the clinical and molecular spectrum of FOXG1- and ZBTB18-associated neurodevelopmental disorders.
Cytogenet Genome Res
; 2023 Dec 06.
Article
in English
| MEDLINE | ID: mdl-38056433
3.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32979048
4.
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
J Hum Genet
; 64(11): 1133-1136, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31481716
5.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Article
in English
| MEDLINE | ID: mdl-38778080
6.
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Eur J Hum Genet
; 30(8): 938-945, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35322241
Results
1 -
6
de 6
1
Next >
>>