Detalhe da pesquisa
1.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
2.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
3.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
4.
Oligodendrocyte development and myelin sheath formation are regulated by the antagonistic interaction between the Rag-Ragulator complex and TFEB.
Glia
; 72(2): 289-299, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37767930
5.
Peppermint essential oil (Mentha piperita L.) increases time to exhaustion in runners.
Eur J Nutr
; 62(8): 3411-3422, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37665425
6.
Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.
Hum Mutat
; 43(9): 1216-1223, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35485770
7.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
8.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
9.
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Clin Genet
; 102(6): 494-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046955
10.
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Am J Med Genet A
; 188(8): 2389-2396, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567597
11.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
12.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat
; 41(2): 403-411, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660661
13.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721432
14.
Body experience and the mother-child relationship in pregnancy: a cross-sectional study of pregnant Portuguese women.
J Reprod Infant Psychol
; 37(5): 527-538, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204493
15.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Am J Hum Genet
; 96(6): 955-61, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004201
16.
Standardized reactors for the study of medical biofilms: a review of the principles and latest modifications.
Crit Rev Biotechnol
; 38(5): 657-670, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954541
17.
Antimicrobial susceptibility and sessile behaviour of bacteria isolated from a minimally processed vegetables plant.
Biofouling
; 34(10): 1150-1160, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30663892
18.
Demonstration tests of irrigation water disinfection with chlorine dioxide in open field cultivation of baby spinach.
J Sci Food Agric
; 98(8): 2973-2980, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29171860
19.
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.
Hepatology
; 62(1): 198-206, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847299
20.
Meiosis-specific stable binding of augmin to acentrosomal spindle poles promotes biased microtubule assembly in oocytes.
PLoS Genet
; 9(6): e1003562, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23785300