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1.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Article
in English
| MEDLINE | ID: mdl-34605855
2.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35616059
3.
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
Neuropediatrics
; 49(6): 417-418, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30001564
4.
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Eur J Med Genet
; 65(11): 104620, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-36122674
5.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Ann Clin Transl Neurol
; 9(7): 1080-1089, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35684946
6.
GM1-Gangliosidosis Type III Associated Parkinsonism.
Mov Disord Clin Pract
; 8(Suppl 1): S21-S23, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34514040
7.
Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism.
Mov Disord Clin Pract
; 8(Suppl 1): S24-S25, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34514041
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