Found: 30
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Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 4, p. 277, doi. 10.1034/j.1399-0004.1999.550411.x
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- Publication type:
- Article
Sensitive detection of GATA1 mutations using complementary DNA‐based analysis for transient abnormal myelopoiesis associated with the Down syndrome.
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- International Journal of Laboratory Hematology, 2022, v. 44, n. 2, p. 349, doi. 10.1111/ijlh.13756
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- Publication type:
- Article
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study.
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- Acta Radiologica, 2012, v. 53, n. 2, p. 223, doi. 10.1258/ar.2011.110339
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- Publication type:
- Article
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
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- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2397, doi. 10.1111/j.1528-1167.2010.02728.x
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- Publication type:
- Article
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
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- Pediatrics International, 2015, v. 57, n. 2, p. 324, doi. 10.1111/ped.12613
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- Publication type:
- Article
New mutation of CACNA1A gene in episodic ataxia type 2.
- Published in:
- Pediatrics International, 2011, v. 53, n. 3, p. 415, doi. 10.1111/j.1442-200X.2011.03390.x
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- Publication type:
- Article
Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy.
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- Pediatrics International, 2006, v. 48, n. 1, p. 97, doi. 10.1111/j.1442-200X.2006.02163.x
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- Publication type:
- Article
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 408, doi. 10.1038/jhg.2014.45
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- Publication type:
- Article
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155
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- Article
Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.
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- Journal of Human Genetics, 2007, v. 52, n. 8, p. 675, doi. 10.1007/s10038-007-0170-1
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- Publication type:
- Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1349, doi. 10.1002/ajmg.a.37002
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- Publication type:
- Article
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36704
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- Publication type:
- Article
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts.
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- Pharmaceutical Research, 2020, v. 37, n. 3, p. 1, doi. 10.1007/s11095-020-2779-0
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- Publication type:
- Article
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
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- Chromosome Research, 2012, v. 20, n. 6, p. 659, doi. 10.1007/s10577-012-9300-5
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- Publication type:
- Article
Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
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- Pediatric Radiology, 2013, v. 43, n. 10, p. 1400, doi. 10.1007/s00247-013-2661-x
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- Publication type:
- Article
NFIA differentially controls adipogenic and myogenic gene program through distinct pathways to ensure brown and beige adipocyte differentiation.
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- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009044
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- Publication type:
- Article
Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family.
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- Journal of Neurology, 2008, v. 255, n. 10, p. 1541, doi. 10.1007/s00415-008-0970-z
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- Publication type:
- Article
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
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- Amino Acids, 2012, v. 43, n. 2, p. 993, doi. 10.1007/s00726-011-1146-1
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- Publication type:
- Article
Analysis of triptan use during pregnancy in Japan: A case series.
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- Congenital Anomalies, 2022, v. 62, n. 2, p. 78, doi. 10.1111/cga.12456
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- Article
Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan.
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- Congenital Anomalies, 2020, v. 60, n. 6, p. 166, doi. 10.1111/cga.12381
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- Publication type:
- Article
5‐Aminolevulinic acid can ameliorate language dysfunction of patients with ATR‐X syndrome.
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- Congenital Anomalies, 2020, v. 60, n. 5, p. 147, doi. 10.1111/cga.12365
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- Publication type:
- Article
Effect of ATRX and G-Quadruplex Formation by the VNTR Sequence on α-Globin Gene Expression.
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- ChemBioChem, 2016, v. 17, n. 10, p. 928, doi. 10.1002/cbic.201500655
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- Article
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly.
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- Annals of Neurology, 2013, v. 73, n. 1, p. 48, doi. 10.1002/ana.23736
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- Article
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).
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- Annals of Neurology, 2002, v. 52, n. 1, p. 122, doi. 10.1002/ana.10235
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- Article
The ATRX splicing variant c.21-1G>A is asymptomatic.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00212-x
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- Article
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
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- 2021
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- Case Study
Atypical eosinophils as a biomarker of idiopathic pericardial effusion associated with transient abnormal myelopoiesis in Down syndrome.
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- Pediatric Blood & Cancer, 2024, v. 71, n. 2, p. 1, doi. 10.1002/pbc.30763
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- Publication type:
- Article
618. A Novel Gene Therapy Strategy for Vascular Ehlers-Danlos Syndrome by the Combination with RNAi Mediated Inhibition of a Mutant Allele and Transcriptional Activation of a Normal Allele
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- 2005
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- Publication type:
- Abstract
Mutations in the chromatin-associated protein ATRX.
- Published in:
- 2008
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- Publication type:
- Other
Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome.
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- British Journal of Haematology, 1999, v. 104, n. 4, p. 893, doi. 10.1046/j.1365-2141.1999.01248.x
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- Publication type:
- Article