Detalhe da pesquisa
1.
Applicability and clinical utility of the German rivermead post-concussion symptoms questionnaire in proxies of children after traumatic brain injury: an instrument validation study.
BMC Neurol
; 24(1): 133, 2024 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38641780
2.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36788019
3.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
J Neurol Neurosurg Psychiatry
; 94(10): 806-815, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37225406
4.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34172529
5.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35962790
6.
Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
Clin Genet
; 102(3): 239-241, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35670639
7.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Genet Med
; 23(2): 341-351, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33024317
8.
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Neurobiol Dis
; 143: 105012, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32653672
9.
Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Am J Med Genet A
; 182(12): 2971-2975, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32918381
10.
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Am J Med Genet A
; 182(3): 570-575, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31825161
11.
Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study.
Neuroepidemiology
; 54(5): 383-391, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32610335
12.
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
J Med Genet
; 56(4): 261-264, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30120217
13.
Moebius syndrome and gastroschisis-The second case of a rare association.
Am J Med Genet A
; 194(1): 111-114, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37743766
14.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 25(5): 100799, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36853234
15.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28661489
16.
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
Ann Neurol
; 79(3): 379-86, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26642834
17.
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
J Med Genet
; 53(12): 820-827, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27439707
18.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18711368
19.
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
J Neurosci
; 35(1): 422-37, 2015 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25568133
20.
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Hum Mol Genet
; 23(16): 4396-405, 2014 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24705355