Detalhe da pesquisa
1.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908151
2.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Blood
; 129(16): 2266-2279, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202457
3.
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Epilepsia
; 59(11): 2125-2136, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255931
4.
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Front Mol Neurosci
; 17: 1372662, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38660387
5.
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Mov Disord Clin Pract
; 11(6): 708-715, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38698576
6.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Eur J Hum Genet
; 32(5): 576-583, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467730
7.
Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis.
Neuropediatrics
; 48(6): 467-472, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28666289
8.
Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Seizure
; 69: 99-104, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004928
9.
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Nat Commun
; 10(1): 410, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679432
10.
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Neurol Genet
; 3(5): e183, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28852709