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The Feeder Effects of Cultured Rice Cells on the Early Development of Rice Zygotes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16541, doi. 10.3390/ijms242216541
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- Article
Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 618, doi. 10.1002/jimd.12610
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- Article
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1059, doi. 10.1002/jimd.12540
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- Article
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 431, doi. 10.1002/jimd.12483
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- Article
Novel AP3B1 mutations in a Hermansky–Pudlak syndrome type2 with neonatal interstitial lung disease.
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- Pediatric Allergy & Immunology, 2022, v. 33, n. 2, p. 1, doi. 10.1111/pai.13748
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- Article
Food Preferences of Patients with Citrin Deficiency.
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- Nutrients, 2021, v. 13, n. 9, p. 3123, doi. 10.3390/nu13093123
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- Article
Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 826, doi. 10.1002/jimd.12384
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- Article
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
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- Experimental & Therapeutic Medicine, 2020, v. 20, n. 5, p. N.PAG, doi. 10.3892/etm.2020.9166
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- Article
Late‐onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults.
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- Acute Medicine & Surgery, 2020, v. 7, n. 1, p. 1, doi. 10.1002/ams2.565
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- Article
Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report.
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- Surgical Case Reports, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1186/s40792-019-0688-4
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- Article
Expression of Genes from Paternal Alleles in Rice Zygotes and Involvement of OsASGR-BBML1 in Initiation of Zygotic Development.
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- Plant & Cell Physiology, 2019, v. 60, n. 4, p. 725, doi. 10.1093/pcp/pcz030
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- Article
Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment.
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- Pediatric Neurosurgery, 2016, v. 52, n. 1, p. 46, doi. 10.1159/000448736
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- Article
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
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- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 3, p. 200, doi. 10.1002/acn3.292
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- Article
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072
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- Article
Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
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- 2014
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- Erratum
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y
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- Article
A comparison of head-out mist bathing, with or without facial fanning, with head-out half-body low-water level bathing in humans-a pilot study.
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- International Journal of Biometeorology, 2014, v. 58, n. 5, p. 999, doi. 10.1007/s00484-013-0685-4
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- Article
Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.
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- Endocrine Journal, 2013, v. 60, n. 12, p. 1329, doi. 10.1507/endocrj.ej13-0334
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- Article
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1316, doi. 10.1038/ejhg.2013.45
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- Article
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2234, doi. 10.1002/ajmg.a.36072
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- Article
Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.
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- Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257
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- Article
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1670, doi. 10.1002/ajmg.a.35335
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- Article
Enhanced Incorporation of 3-Hydroxy-4-Methylvalerate Unit into Biosynthetic Polyhydroxyalkanoate Using Leucine as a Precursor.
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- AMB Express, 2011, v. 1, n. 1, p. 1, doi. 10.1186/2191-0855-1-6
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- Article
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
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- Journal of Human Genetics, 2010, v. 55, n. 12, p. 801, doi. 10.1038/jhg.2010.116
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- Article
Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.
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- Journal of Human Genetics, 2008, v. 53, n. 1, p. 10, doi. 10.1007/s10038-007-0212-8
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- Article
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
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- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1040, doi. 10.1007/s10038-007-0211-9
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- Article
Roles of specific cytokines in bone remodeling and hematopoiesis in Gaucher disease.
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- Pediatrics International, 2007, v. 49, n. 6, p. 959, doi. 10.1111/j.1442-200X.2007.02502.x
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- Article
Late-onset ornithine transcarbamylase deficiency in male patients: Prognostic factors and characteristics of plasma amino acid profile.
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- Pediatrics International, 2006, v. 48, n. 2, p. 105, doi. 10.1111/j.1442-200X.2006.02181.x
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- Article
Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate.
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- PLoS Genetics, 2005, v. 1, n. 6, p. e64, doi. 10.1371/journal.pgen.0010064
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- Article
Contrast Effects and Approval Voting: An Illustration of a Systematic Violation of the Independence of Irrelevant Alternatives Condition.
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- Political Psychology, 2003, v. 24, n. 3, p. 549, doi. 10.1111/0162-895X.00340
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- Article
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
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- Nature Genetics, 2002, v. 32, n. 2, p. 285, doi. 10.1038/ng985
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- Article
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.
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- Human Mutation, 2001, v. 18, n. 5, p. 422, doi. 10.1002/humu.1213
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- Article
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
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- Human Mutation, 1997, v. 10, n. 4, p. 326, doi. 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1
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- Article