Detalles de la búsqueda
1.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35790351
2.
A case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscope.
Childs Nerv Syst
; 39(8): 2045-2051, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37393333
3.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Am J Hum Genet
; 104(3): 520-529, 2019 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30824121
4.
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Mol Genet Metab
; 134(1-2): 195-202, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34412939
5.
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
J Inherit Metab Dis
; 43(5): 1037-1045, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32395830
6.
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
Am J Med Genet A
; 176(12): 2803-2807, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30152144
7.
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
J Hum Genet
; 61(10): 899-902, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27251004
8.
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
J Hum Genet
; 60(10): 631-5, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26108146
9.
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.
Am J Med Genet A
; 167A(4): 724-30, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25736188
10.
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
J Hum Genet
; 59(6): 300-6, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24646727
11.
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
Am J Med Genet A
; 164A(2): 415-20, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24311364
12.
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.
Am J Med Genet A
; 164A(3): 634-8, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24357251
13.
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 161A(6): 1465-9, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23637096
14.
Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.
Am J Med Genet A
; 161A(5): 1078-84, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23463730
15.
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
Am J Med Genet A
; 161A(7): 1779-85, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23704079
16.
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
Am J Med Genet A
; 161A(8): 2078-83, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23825006
17.
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
Am J Med Genet A
; 161A(12): 3049-56, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24039031
18.
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
Am J Med Genet A
; 158A(7): 1771-7, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22678813
19.
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Brain Dev
; 41(9): 776-782, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31171384
20.
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
Seizure
; 71: 1-5, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31154286