Detalhe da pesquisa
1.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752
2.
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
Am J Med Genet A
; 182(7): 1562-1571, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32426895
3.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(12): 2467, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34667295
4.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937
5.
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
Mol Genet Genomic Med
; 10(12): e2054, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106513
6.
Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression.
J Pediatr Genet
; 10(3): 222-229, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504726
7.
Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review.
Child Neurol Open
; 8: 2329048X211036137, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34423068
8.
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
J Child Neurol
; 36(1): 65-78, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875938
9.
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Mol Genet Genomic Med
; 7(6): e00676, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31020813