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1.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33743206
2.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34186028
3.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain
; 145(10): 3383-3390, 2022 10 21.
Article
in English
| MEDLINE | ID: mdl-35737950
4.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Genet Med
; 21(8): 1832-1841, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30675029
5.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38284452
6.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Front Cell Dev Biol
; 10: 1020609, 2022.
Article
in English
| MEDLINE | ID: mdl-36726590
7.
Assessment of Sleep-Related Problems in Children with Cerebral Palsy Using the SNAKE Sleep Questionnaire.
Children (Basel)
; 8(9)2021 Sep 01.
Article
in English
| MEDLINE | ID: mdl-34572204
8.
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
J Mol Med (Berl)
; 99(12): 1755-1768, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34536092
9.
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Eur J Hum Genet
; 29(3): 411-421, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33168985
10.
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Nat Genet
; 52(12): 1364-1372, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33230297
11.
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
J Mol Med (Berl)
; 99(12): 1769-1770, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34661688
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