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1.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
Hum Genet
; 142(1): 59-71, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36048237
2.
[Anti-MOG + neuromyelitis optica spectrum disorders treated with plasmapheresis].
No To Hattatsu
; 48(3): 199-203, 2016 May.
Artículo
en Japonés
| MEDLINE | ID: mdl-27349083
3.
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.
Pediatr Neurol
; 157: 29-38, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38848614
4.
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Hum Genome Var
; 9(1): 9, 2022 Mar 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-35361766
5.
A Neonatal Case of Mild Encephalopathy/Encephalitis with a Reversible Splenial Lesion.
Child Neurol Open
; 9: 2329048X221111716, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35936110
6.
A severe case of status dystonicus caused by a de novo KMT2B missense mutation.
Eur J Med Genet
; 63(11): 104057, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32877735
7.
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.
Hum Genome Var
; 7: 11, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32337051
8.
Simple and reliable method to simultaneously determine urinary 1- and 2-naphthol using in situ derivatization and gas chromatography-mass spectrometry for biological monitoring of naphthalene exposure in occupational health practice.
J Occup Health
; 62(1): e12144, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-32713100
9.
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
Hum Genome Var
; 6: 23, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31098032
10.
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.
Clin Case Rep
; 6(2): 330-336, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29445472
11.
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
Hum Genome Var
; 4: 17002, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28224042
12.
Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study.
Mol Genet Metab Rep
; 11: 2-5, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30547004
13.
Correlation of augmented startle reflex with brainstem electrophysiological responses in Tay-Sachs disease.
Brain Dev
; 37(1): 101-6, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24534057
14.
Simultaneous determination of alkylphenols and bisphenol A in river water by stir bar sorptive extraction with in situ acetylation and thermal desorption-gas chromatography-mass spectrometry.
J Chromatogr A
; 1038(1-2): 291-4, 2004 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-15233544
15.
Deoxidation of fenthion sulfoxide, fenthion oxon sulfoxide and fensulfothion in gas chromatograph/mass spectrometer, and the prevention of sulfoxide deoxidation by polyethylene glycol 300.
Anal Sci
; 28(7): 669-73, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22790368
16.
Matrix behavior during sample preparation using metabolomics analysis approach for pesticide residue analysis by GC-MS in agricultural products.
J Agric Food Chem
; 60(41): 10226-34, 2012 Oct 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-22985413
17.
Pediatric case of oral mucous pemphigus complicated by protein-losing gastroenteropathy.
J Dermatol
; 43(11): 1392-1394, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27130290
18.
Fast screening of pesticide multiresidues in aqueous samples by dual stir bar sorptive extraction-thermal desorption-low thermal mass gas chromatography-mass spectrometry.
J Chromatogr A
; 1130(1): 83-90, 2006 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-16814312
19.
Simultaneous determination of 64 pesticides in river water by stir bar sorptive extraction and thermal desorption-gas chromatography-mass spectrometry.
Anal Bioanal Chem
; 382(1): 99-107, 2005 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15900458
20.
Determination of 2-methylisoborneol and geosmin in aqueous samples by static headspace-gas chromatography-mass spectrometry with ramped inlet pressure.
J Sep Sci
; 28(18): 2511-6, 2005 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-16405182
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