Found: 29
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MECP2 mutations in Swedish Rett syndrome clusters.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 5, p. 384, doi. 10.1034/j.1399-0004.2002.610512.x
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- Publication type:
- Article
Treatment of adrenoleukodystrophy with bone marrow transplantation.
- Published in:
- 1997
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- Publication type:
- journal article
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
- Published in:
- 1996
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- Publication type:
- journal article
Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3.
- Published in:
- Acta Paediatrica, 1996, v. 85, n. 12, p. 1506, doi. 10.1111/j.1651-2227.1996.tb13963.x
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- Publication type:
- Article
Diagnosis of the Prader-Willi syndrome by proving the absence of the unmethylated PW71 DNA fragment.
- Published in:
- 1996
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- Publication type:
- journal article
Frequency of four cystic fibrosis mutations in a Swedish population.
- Published in:
- Acta Paediatrica, 1993, v. 82, n. 6/7, p. 609, doi. 10.1111/j.1651-2227.1993.tb12769.x
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- Publication type:
- Article
Relationship between amount of Epstein-Barr virus-determined nuclear antigen per cell and number of EBV-DNA copies per cell.
- Published in:
- Nature, 1977, v. 266, n. 5599, p. 269, doi. 10.1038/266269a0
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- Publication type:
- Article
APOE genotypes and disease severity in multiple sclerosis.
- Published in:
- Multiple Sclerosis (13524585), 2002, v. 8, n. 2, p. 98, doi. 10.1191/1352458502ms787oa
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- Publication type:
- Article
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.
- Published in:
- Nature, 1990, v. 348, n. 6300, p. 452
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- Publication type:
- Article
Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis.
- Published in:
- Genes & Immunity, 2005, v. 6, n. 2, p. 145, doi. 10.1038/sj.gene.6364171
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- Publication type:
- Article
High suicidal ideation in persons testing for Huntington's disease.
- Published in:
- Acta Neurologica Scandinavica, 2000, v. 102, n. 3, p. 150, doi. 10.1034/j.1600-0404.2000.102003150.x
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- Publication type:
- Article
Parental exposure to hydrocarbons in Prader-Willi syndrome.
- Published in:
- 1995
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- Publication type:
- journal article
On laboratory problems in diagnosing mild von Willebrand's disease.
- Published in:
- American Journal of Hematology, 1992, v. 40, n. 2, p. 117, doi. 10.1002/ajh.2830400208
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- Publication type:
- Article
Relationship between the amounts of EBV-DNA and ebna per cell, clonability and tumorigenicity in two EBV-negative lymphoma lines and their EBV-converted sublines.
- Published in:
- International Journal of Cancer, 1983, v. 31, n. 2, p. 163, doi. 10.1002/ijc.2910310206
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- Publication type:
- Article
Reciprocal 8;14 translocation in EBV-negative B-cell acute lymphocytic leukemia with burkitt-type cells.
- Published in:
- International Journal of Cancer, 1979, v. 24, n. 1, p. 27, doi. 10.1002/ijc.2910240106
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- Publication type:
- Article
14q+ marker chromosome in an EBV-genome-negative lymph node without signs of malignancy in a patient with EBV-genome-positive nasopharyngeal carcinoma.
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- International Journal of Cancer, 1979, v. 23, n. 1, p. 32, doi. 10.1002/ijc.2910230107
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- Publication type:
- Article
Genetic linkage of Welander distal myopathy to chromosome 2p13.
- Published in:
- 1999
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- Publication type:
- journal article
Alcohol dehydrogenase alleles in Parkinson's disease.
- Published in:
- 2000
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- Publication type:
- journal article
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU17>3.0.CO;2-J
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- Publication type:
- Article
ERRATUM.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 974
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- Publication type:
- Article
Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 207
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- Publication type:
- Article
Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 189
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- Publication type:
- Article
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 12, p. 2103
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- Publication type:
- Article
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1535
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- Publication type:
- Article
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 9, p. 1397
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- Publication type:
- Article
Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene).
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 9, p. 780
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- Publication type:
- Article
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 1, p. 61
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- Publication type:
- Article
Genetic mapping of loci for X-linked retinitis pigmentosa.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 6, p. 435, doi. 10.1111/j.1399-0004.1991.tb03115.x
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- Publication type:
- Article
A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 6, p. 435, doi. 10.1111/j.1399-0004.1988.tb03477.x
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- Publication type:
- Article