Detalhe da pesquisa
1.
R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Am J Med Genet A
; 185(6): 1776-1786, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750005
2.
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
Hum Mutat
; 41(8): 1447-1460, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485067
3.
Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex.
Cereb Cortex
; 29(9): 3738-3751, 2019 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30307479
4.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain
; 141(6): 1622-1636, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718187
5.
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
Am J Med Genet A
; 173(8): 2201-2209, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28599099
6.
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
J Med Genet
; 52(10): 691-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251176
7.
Lateral neck pain as a symptom of severe sinusitis: A case report.
Pediatr Int
; 63(5): 589-590, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33725394
8.
Mutations in HADHB, which encodes the ß-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Am J Med Genet A
; 164A(5): 1180-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664533
9.
Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
Am J Med Genet A
; 164A(4): 924-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478188
10.
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Am J Med Genet A
; 164A(8): 1899-908, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715670
11.
The efficacy and safety of intravenous immunoglobulin infusion in 12 h for the initial treatment of Kawasaki disease.
Pediatr Neonatol
; 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281860
12.
Chronic exercise enhances insulin secretion ability of pancreatic islets without change in insulin content in non-diabetic rats.
Biochem Biophys Res Commun
; 430(2): 676-82, 2013 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23211597
13.
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Eur J Med Genet
; 66(12): 104882, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944854
14.
MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
Am J Med Genet A
; 158A(1): 97-102, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105905
15.
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
Am J Med Genet A
; 158A(9): 2347-52, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887762
16.
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
Am J Med Genet A
; 155A(9): 2274-80, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21834029
17.
Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20C.
Keio J Med
; 70(2): 44-50, 2021 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853975
18.
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
BMC Med Genet
; 11: 171, 2010 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21176162
19.
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.
Am J Med Genet A
; 152A(12): 3057-67, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21086493
20.
Magnetization switching of a perpendicular nanomagnet induced by vertical nonlocal injection of pure spin current.
Sci Rep
; 9(1): 19543, 2019 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863030