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Involvement of aldehyde dehydrogenase 1A2 in the regulation of cancer stem cell properties in neuroblastoma.
- Published in:
- International Journal of Oncology, 2015, v. 46, n. 3, p. 1089, doi. 10.3892/ijo.2014.2801
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- Publication type:
- Article
The emergence of CD20-/CD19- tumor cells after rituximab therapy for Epstein-Barr virus-associated post-transplant lymphoproliferative disorder complicated with hemophagocytic lymphohistiocytosis.
- Published in:
- 2014
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- Publication type:
- journal article
Culture-Proven Neonatal Sepsis in Japanese Neonatal Care Units in 2006-2008.
- Published in:
- Neonatology (16617800), 2012, v. 102, n. 1, p. 75, doi. 10.1159/000337833
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- Publication type:
- Article
Hypoalbuminemia following Abdominal Surgery Leads to High Serum Unbound Bilirubin Concentrations in Newborns Soon after Birth.
- Published in:
- Neonatology (16617800), 2011, v. 99, n. 3, p. 202, doi. 10.1159/000314893
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- Publication type:
- Article
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia.
- Published in:
- 2002
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- Publication type:
- journal article
An Antisense Oligonucleotide against a Splicing Enhancer Sequence within Exon 1 of the MSTN Gene Inhibits Pre-mRNA Maturation to Act as a Novel Myostatin Inhibitor.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5016, doi. 10.3390/ijms23095016
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- Publication type:
- Article
Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9136, doi. 10.3390/ijms21239136
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- Publication type:
- Article
Intronic Alternative Polyadenylation in the Middle of the DMD Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3555, doi. 10.3390/ijms21103555
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- Publication type:
- Article
Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1546, doi. 10.3390/ijms19061546
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- Publication type:
- Article
A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.
- Published in:
- 2021
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- Publication type:
- journal article
A sandwich ELISA kit reveals marked elevation of titin N‐terminal fragment levels in the urine of mdx mice.
- Published in:
- Animal Models & Experimental Medicine, 2022, v. 5, n. 1, p. 48, doi. 10.1002/ame2.12204
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- Publication type:
- Article
Urinary Titin N-Fragment as a Biomarker of Muscle Atrophy, Intensive Care Unit-Acquired Weakness, and Possible Application for Post-Intensive Care Syndrome.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 614, doi. 10.3390/jcm10040614
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- Publication type:
- Article
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2190
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- Publication type:
- Article
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1342
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- Publication type:
- Article
Acetaminophen administration in a patient with Gilbert's syndrome.
- Published in:
- Pediatrics International, 2012, v. 54, n. 6, p. 934, doi. 10.1111/j.1442-200X.2012.03602.x
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- Publication type:
- Article
Treatment of preterm infants with West syndrome: Differences due to etiology.
- Published in:
- Pediatrics International, 2012, v. 54, n. 6, p. 892, doi. 10.1111/j.1442-200X.2012.03708.x
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- Publication type:
- Article
Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis.
- Published in:
- Pediatrics International, 2012, v. 54, n. 5, p. 602, doi. 10.1111/j.1442-200X.2012.03646.x
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- Publication type:
- Article
Predicting scores for left ventricular dysfunction in Duchenne muscular dystrophy.
- Published in:
- Pediatrics International, 2012, v. 54, n. 3, p. 388, doi. 10.1111/j.1442-200X.2012.03559.x
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- Publication type:
- Article
Is bilirubin/albumin ratio correlated with unbound bilirubin concentration?
- Published in:
- Pediatrics International, 2012, v. 54, n. 1, p. 81, doi. 10.1111/j.1442-200X.2011.03457.x
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- Publication type:
- Article
A surviving case of papillorenal syndrome with the phenotype of Potter sequence.
- Published in:
- Pediatrics International, 2011, v. 53, n. 3, p. 406, doi. 10.1111/j.1442-200X.2010.03261.x
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- Publication type:
- Article
Effect of CPS14217C>A genotype on valproic-acid-induced hyperammonemia.
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- Pediatrics International, 2010, v. 52, n. 5, p. 744, doi. 10.1111/j.1442-200X.2010.03157.x
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- Publication type:
- Article
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
- Published in:
- Pediatrics International, 2010, v. 52, n. 2, p. 234, doi. 10.1111/j.1442-200X.2009.02916.x
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- Publication type:
- Article
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
- Published in:
- Pediatrics International, 2009, v. 51, n. 6, p. 775, doi. 10.1111/j.1442-200X.2009.02863.x
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- Publication type:
- Article
Risk factors for developing severe clinical course in HUS patients: a national survey in Japan.
- Published in:
- Pediatrics International, 2008, v. 50, n. 4, p. 441, doi. 10.1111/j.1442-200X.2008.02605.x
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- Publication type:
- Article
SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
- Published in:
- Pediatrics International, 2008, v. 50, n. 3, p. 346, doi. 10.1111/j.1442-200X.2008.02590.x
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- Publication type:
- Article
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
- Published in:
- Pediatrics International, 2008, v. 50, n. 3, p. 312, doi. 10.1111/j.1442-200X.2008.02610.x
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- Publication type:
- Article
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
- Published in:
- Pediatrics International, 2008, v. 50, n. 2, p. 167, doi. 10.1111/j.1442-200X.2008.02539.x
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- Publication type:
- Article
Prognosis and pathological characteristics of five children with non-Shiga toxin-mediated hemolytic uremic syndrome.
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- Pediatrics International, 2007, v. 49, n. 2, p. 196, doi. 10.1111/j.1442-200X.2007.02352.x
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- Publication type:
- Article
C117T variant in the SMN1 gene found in the Japanese population.
- Published in:
- Pediatrics International, 2007, v. 49, n. 1, p. 8, doi. 10.1111/j.1442-200X.2007.02301.x
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- Publication type:
- Article
Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients.
- Published in:
- Pediatrics International, 2007, v. 49, n. 1, p. 11, doi. 10.1111/j.1442-200X.2007.02302.x
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- Publication type:
- Article
High-dose mizoribine treatment for adolescents with systemic lupus erythematosus.
- Published in:
- Pediatrics International, 2006, v. 48, n. 2, p. 152, doi. 10.1111/j.1442-200X.2006.02178.x
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- Publication type:
- Article
Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies.
- Published in:
- Pediatrics International, 2005, v. 47, n. 3, p. 258, doi. 10.1111/j.1442-200x.2005.02052.x
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- Publication type:
- Article
Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations.
- Published in:
- Pediatrics International, 2004, v. 46, n. 5, p. 565, doi. 10.1111/j.1442-200x.2004.01959.x
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- Publication type:
- Article
C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia.
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- Pediatrics International, 2004, v. 46, n. 4, p. 409, doi. 10.1111/j.1442-200x.2004.01927.x
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- Publication type:
- Article
Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: A pilot study on Filipino male newborns.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 10, doi. 10.1046/j.1442-200X.2003.01676.x
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- Publication type:
- Article
Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.
- Published in:
- Pediatrics International, 2002, v. 44, n. 4, p. 427, doi. 10.1046/j.1442-200X.2002.t01-1-01577.x
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- Publication type:
- Article
Disorders of Voluntary Muscle.
- Published in:
- 2002
- By:
- Publication type:
- Book Review
Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.
- Published in:
- Pediatrics International, 1999, v. 41, n. 2, p. 138, doi. 10.1046/j.1442-200x.1999.4121035.x
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- Publication type:
- Article
Early cardiac failure in a child with Becker muscular dystrophy is due to an abnormally low amount of dystrophin transcript lacking exon 13.
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- Pediatrics International, 1997, v. 39, n. 6, p. 685, doi. 10.1111/j.1442-200X.1997.tb03668.x
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- Publication type:
- Article
Study on Rapid Turnover Proteins in Neonates.
- Published in:
- Pediatrics International, 1987, v. 29, n. 5, p. 737, doi. 10.1111/j.1442-200X.1987.tb00370.x
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- Publication type:
- Article
Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 9, p. 978, doi. 10.3390/life11090978
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- Publication type:
- Article
Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA.
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- Journal of Human Genetics, 2015, v. 60, n. 6, p. 327, doi. 10.1038/jhg.2015.24
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- Publication type:
- Article
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
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- Journal of Human Genetics, 2014, v. 59, n. 8, p. 423, doi. 10.1038/jhg.2014.36
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- Publication type:
- Article
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 46, doi. 10.1038/jhg.2013.119
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- Publication type:
- Article
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 1, p. 33, doi. 10.1038/jhg.2012.131
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- Publication type:
- Article
Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 12, p. 785, doi. 10.1038/jhg.2010.111
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- Publication type:
- Article
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 6, p. 379, doi. 10.1038/jhg.2010.49
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- Publication type:
- Article
Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 8, p. 466, doi. 10.1038/jhg.2009.63
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- Publication type:
- Article
Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 3, p. 215, doi. 10.1007/s10038-007-0235-1
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- Publication type:
- Article
Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 7, p. 607, doi. 10.1007/s10038-007-0163-0
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- Publication type:
- Article