Detalhe da pesquisa
1.
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
Cerebellum
; 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831383
2.
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Am J Med Genet A
; 188(1): 319-325, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580982
3.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis
; 45(5): 969-980, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716054
4.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816121
5.
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Am J Med Genet A
; 182(11): 2675-2679, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875707
6.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
7.
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
BMC Med Genomics
; 17(1): 68, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443934
8.
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Genes (Basel)
; 14(8)2023 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628577
9.
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
Front Neurol
; 14: 1207176, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37521304
10.
A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.
Intractable Rare Dis Res
; 10(2): 95-101, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33996354
11.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Genes (Basel)
; 12(7)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34206215
12.
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Genes (Basel)
; 12(7)2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202629