Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
3.
TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.
Am J Med Genet A
; 194(5): e63510, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135344
4.
Diagnostic work-up in malformations of cortical development.
Dev Med Child Neurol
; 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394064
5.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
6.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Brain
; 145(12): 4232-4245, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139179
7.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
8.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
9.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
; 58(10): 712-716, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820033
10.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Ann Neurol
; 88(2): 348-362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515017
11.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879067
12.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Am J Hum Genet
; 99(1): 217-27, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374774
13.
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.
J Assist Reprod Genet
; 36(3): 491-497, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30483911
14.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
J Med Genet
; 54(6): 432-440, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28258187
15.
I-PV: a CIRCOS module for interactive protein sequence visualization.
Bioinformatics
; 32(3): 447-9, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26454277
16.
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
BMC Bioinformatics
; 17(1): 425, 2016 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760515
17.
Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.
J Assist Reprod Genet
; 32(7): 1063-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982422
18.
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Nat Commun
; 15(1): 1232, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336715
19.
X chromosomal mutations and spermatogenic failure.
Biochim Biophys Acta
; 1822(12): 1864-72, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22634129
20.
Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review.
Eur J Paediatr Neurol
; 37: 155-164, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34535379