Detalhe da pesquisa
1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
2.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894126
3.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
4.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
5.
The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration.
Int J Mol Sci
; 23(7)2022 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35409239
6.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet
; 140(6): 885-896, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417013
7.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Hum Genet
; 138(8-9): 1051-1069, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974297
8.
A Child with a Congenital Aplasia of the Scalp: A Quiz.
Acta Derm Venereol
; 104: adv39948, 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38881509
9.
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Ann Neurol
; 83(2): 437-439, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29369404
10.
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Ann Clin Transl Neurol
; 11(4): 1075-1079, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504481
11.
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.
Front Neurosci
; 17: 1154446, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37144098
12.
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Clin Chim Acta
; 551: 117620, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375626
13.
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Eur J Hum Genet
; 30(5): 567-576, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782754
14.
Melorheostosis or "Dripping Candle Wax" Bone Disease.
J Rheumatol
; 49(11): 1283, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705240