Found: 79
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Identification of novel ALK rearrangement A2M-ALK in a neonate with fetal lung interstitial tumor.
- Published in:
- Genes, Chromosomes & Cancer, 2014, v. 53, n. 10, p. 865, doi. 10.1002/gcc.22199
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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
Effects of heat stress on production, somatic cell score and conception rate in Holsteins.
- Published in:
- Animal Science Journal, 2017, v. 88, n. 1, p. 3, doi. 10.1111/asj.12617
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- Publication type:
- Article
Effects of a breeding scheme combined by genomic pre-selection and progeny testing on annual genetic gain in a dairy cattle population.
- Published in:
- Animal Science Journal, 2014, v. 85, n. 6, p. 639, doi. 10.1111/asj.12186
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- Publication type:
- Article
Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
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
Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu.
- Published in:
- American Journal of Hematology, 1988, v. 28, n. 3, p. 186, doi. 10.1002/ajh.2830280312
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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
Prenatal Diagnosis of Thanatophoric Dysplasia by 3-D Helical Computed Tomography and Genetic Analysis.
- Published in:
- Fetal Diagnosis & Therapy, 2008, v. 24, n. 4, p. 420, doi. 10.1159/000170092
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- Publication type:
- Article
A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage.
- Published in:
- Case Reports in Gastroenterology, 2013, v. 7, n. 2, p. 340, doi. 10.1159/000354725
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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
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
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
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
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
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 777, doi. 10.1007/s10545-018-0176-1
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- Publication type:
- Article
INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.
- Published in:
- 2013
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- Publication type:
- Letter
Non-obese early onset diabetes mellitus in mutant cryptochrome1 transgenic mice.
- Published in:
- European Journal of Clinical Investigation, 2010, v. 40, n. 11, p. 1011, doi. 10.1111/j.1365-2362.2010.02359.x
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- Publication type:
- Article
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
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
- Published in:
- 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
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
- Published in:
- Human Mutation, 2002, v. 20, n. 5, p. 392, doi. 10.1002/humu.10134
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- Publication type:
- Article
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
- Published in:
- Human Mutation, 1998, v. 11, n. 2, p. 109, doi. 10.1002/(SICI)1098-1004(1998)11:2<109::AID-HUMU2>3.0.CO;2-E
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- Publication type:
- Article
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118.
- Published in:
- Human Mutation, 1998, v. 11, p. S103, doi. 10.1002/humu.1380110134
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- Publication type:
- Article
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 563, doi. 10.1002/(SICI)1098-1004(1997)9:6<563::AID-HUMU10>3.0.CO;2-0
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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
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
Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.
- Published in:
- Tohoku Journal of Experimental Medicine, 2016, v. 240, n. 4, p. 323, doi. 10.1620/tjem.240.323
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- Publication type:
- Article
Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy.
- Published in:
- Clinical & Experimental Nephrology, 2009, v. 13, n. 6, p. 659, doi. 10.1007/s10157-009-0207-1
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- Publication type:
- Article
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 805, doi. 10.1002/humu.23219
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- Publication type:
- Article