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Haemophagocytic lymphohistiocytosis following measles vaccination.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 9, p. 494, doi. 10.1007/s00431-002-1027-4
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- Publication type:
- Article
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia.
- Published in:
- 2004
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- Publication type:
- journal article
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1441, doi. 10.1111/j.1528-1167.2012.03548.x
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- Publication type:
- Article
Frameshift mutations of the ARX gene in familial Ohtahara syndrome.
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- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1679, doi. 10.1111/j.1528-1167.2010.02559.x
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- Publication type:
- Article
Novel PHOX2B mutations in congenital central hypoventilation syndrome.
- Published in:
- Pediatrics International, 2019, v. 61, n. 4, p. 393, doi. 10.1111/ped.13812
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- Publication type:
- Article
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.
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- Pediatrics International, 2012, v. 54, n. 5, p. 709, doi. 10.1111/j.1442-200X.2012.03594.x
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- Publication type:
- Article
Slowly progressive sleep apnea in late-onset central hypoventilation syndrome.
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- Pediatrics International, 2012, v. 54, n. 2, p. 290, doi. 10.1111/j.1442-200X.2011.03431.x
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- Publication type:
- Article
A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1.
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- Pediatrics International, 2011, v. 53, n. 1, p. 107, doi. 10.1111/j.1442-200X.2010.03238.x
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- Publication type:
- Article
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: The common−3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese.
- Published in:
- Pediatrics International, 2005, v. 47, n. 2, p. 137, doi. 10.1111/j.1442-200x.2005.02030.x
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- Publication type:
- Article
Mild immunoglobulin A nephropathy in a patient with a marked increase in serum immunoglobulin A.
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- Pediatrics International, 2004, v. 46, n. 3, p. 371, doi. 10.1111/j.1442-200x.2004.01899.x
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- Publication type:
- Article
Beraprost sodium for pulmonary hypertension with congenital heart disease.
- Published in:
- 2002
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- Publication type:
- Case Study
Mutation analysis of phenylketonuria in Yamagata prefecture, Japan.
- Published in:
- Pediatrics International, 2001, v. 43, n. 1, p. 1, doi. 10.1046/j.1442-200X.2001.01336.x
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- Publication type:
- Article
A new form of total anomalous pulmonary venous connection with double drainage.
- Published in:
- Pediatrics International, 2000, v. 42, n. 4, p. 369
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- Publication type:
- Article
CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen.
- Published in:
- Pediatrics International, 1998, v. 40, n. 6, p. 580, doi. 10.1111/j.1442-200X.1998.tb01994.x
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- Publication type:
- Article
Treatment of Cystinosis: Decrease in Content of Free Cystine in Leukocytes and Alleviation of Progressive Renal Failure by Treatment with Riboflavin.
- Published in:
- Pediatrics International, 1986, v. 28, n. 4, p. 573, doi. 10.1111/j.1442-200X.1986.tb00762.x
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- Publication type:
- Article
Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 473, doi. 10.1038/jhg.2015.65
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- Publication type:
- Article
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms.
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- Journal of Human Genetics, 2015, v. 60, n. 1, p. 35, doi. 10.1038/jhg.2014.98
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- Publication type:
- Article
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 273, doi. 10.1038/jhg.2013.15
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- Publication type:
- Article
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 254, doi. 10.1038/jhg.2013.8
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- Publication type:
- Article
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding.
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- Journal of Human Genetics, 2013, v. 58, n. 1, p. 7, doi. 10.1038/jhg.2012.116
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- Publication type:
- Article
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.
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- Journal of Human Genetics, 2012, v. 57, n. 5, p. 335, doi. 10.1038/jhg.2012.27
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- Publication type:
- Article
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
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- Journal of Human Genetics, 2011, v. 56, n. 10, p. 751, doi. 10.1038/jhg.2011.81
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- Publication type:
- Article
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 5, p. 364, doi. 10.1038/jhg.2011.20
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- Publication type:
- Article
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.
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- Journal of Human Genetics, 2010, v. 55, n. 11, p. 771, doi. 10.1038/jhg.2010.106
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- Publication type:
- Article
Phenotypic variability in a family with Townes–Brocks syndrome.
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- Journal of Human Genetics, 2010, v. 55, n. 8, p. 550, doi. 10.1038/jhg.2010.64
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- Publication type:
- Article
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 4, doi. 10.1038/jhg.2009.109
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- Publication type:
- Article
The GARS gene is rarely mutated in Japanese patients with Charcot–Marie–Tooth neuropathy.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 310, doi. 10.1038/jhg.2009.25
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- Publication type:
- Article
Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype.
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- Journal of Human Genetics, 2009, v. 54, n. 2, p. 94, doi. 10.1038/jhg.2008.13
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- Publication type:
- Article
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 921, doi. 10.1007/s10038-007-0197-3
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- Publication type:
- Article
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
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- Journal of Human Genetics, 2006, v. 51, n. 7, p. 625, doi. 10.1007/s10038-006-0408-3
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- Publication type:
- Article
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.
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- Journal of Human Genetics, 2005, v. 50, n. 9, p. 473, doi. 10.1007/s10038-005-0280-6
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- Publication type:
- Article
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
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- Journal of Human Genetics, 2004, v. 49, n. 7, p. 376, doi. 10.1007/s10038-004-0162-3
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- Publication type:
- Article
Human CD4+ central and effector memory T cells produce IL-21: effect on cytokine-driven proliferation of CD4+ T cell subsets.
- Published in:
- International Immunology, 2007, v. 19, n. 10, p. 1191, doi. 10.1093/intimm/dxm090
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- Publication type:
- Article
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2879, doi. 10.1002/ajmg.a.34289
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- Publication type:
- Article
Pathogenesis and Management of Citrin Deficiency.
- Published in:
- Internal Medicine, 2024, v. 63, n. 14, p. 1977, doi. 10.2169/internalmedicine.2595-23
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- Publication type:
- Article
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 782, doi. 10.1038/ng.150
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- Publication type:
- Article
Unique food-entrained circadian rhythm in cysteine414-alanine mutant mCRY1 transgenic mice.
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- Sleep & Biological Rhythms, 2016, v. 14, n. 3, p. 261, doi. 10.1007/s41105-016-0050-1
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- Publication type:
- Article
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 23, doi. 10.1007/s00439-004-1199-2
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- Publication type:
- Article
Molecular analysis of congenital central hypoventilation syndrome.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 22, doi. 10.1007/s00439-003-1036-z
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- Publication type:
- Article
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 108, doi. 10.1007/s004390051017
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- Publication type:
- Article
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese.
- Published in:
- IUBMB Life, 1998, v. 46, n. 1, p. 21, doi. 10.1080/15216549800203512
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- Publication type:
- Article
Isolation and sequence determination of cDNA encoding mouse rab 4 and candidate approach for the beige mutation in mice.
- Published in:
- IUBMB Life, 1996, v. 40, n. 4, p. 647, doi. 10.1080/15216549600201243
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- Publication type:
- Article
Cross-talk between ß<sub>1</sub>-adrenoceptors and ET<sub>A</sub> receptors in modulation of the slow component of delayed rectifier K<sup>+</sup> currents.
- Published in:
- Naunyn-Schmiedeberg's Archives of Pharmacology, 2005, v. 371, n. 2, p. 133, doi. 10.1007/s00210-005-1018-x
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- Publication type:
- Article
Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia.
- Published in:
- European Journal of Haematology, 2013, v. 91, n. 6, p. 557, doi. 10.1111/ejh.12186
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- Publication type:
- Article
Demyelinating and axonal features of Charcot–Marie–Tooth disease with mutations of myelin‐related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 1, p. 134, doi. 10.1093/brain/awg012
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- Publication type:
- Article
Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu.
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- American Journal of Hematology, 1988, v. 28, n. 3, p. 186, doi. 10.1002/ajh.2830280312
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- Publication type:
- Article
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 2, p. 298, doi. 10.1002/ana.23620
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- Publication type:
- Article
Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.
- Published in:
- 2001
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- Publication type:
- journal article
Metabolic basis and treatment of citrin deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 110, doi. 10.1002/jimd.12294
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- Publication type:
- Article
Growth impairment in individuals with citrin deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 501, doi. 10.1002/jimd.12051
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- Publication type:
- Article