Found: 13
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Incontinentia pigmenti: a chromosomal breakage syndrome.
- Published in:
- Journal of Heredity, 1976, v. 67, n. 3, p. 171
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- Publication type:
- Article
Extension of Phenotype Associated with Structural Mutations in Type I Collagen: Siblings with Juvenile Osteoporosis Have an α2(I)Gly436 → Arg Substitution.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 3, p. 449, doi. 10.1359/jbmr.1999.14.3.449
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- Publication type:
- Article
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 20, doi. 10.1038/83713
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- Publication type:
- Article
Confined placental mosaicism for trisomy 8 and intra-uterine growth retardation.
- Published in:
- 1998
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- Publication type:
- journal article
Discordant puberty in monozygotic twin sisters with neurofibromatosis type 1 (NF1).
- Published in:
- Clinical Pediatrics, 1998, v. 37, n. 5, p. 301, doi. 10.1177/000992289803700504
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- Publication type:
- Article
Progression of cardiac disease in emery-dreifuss muscular dystrophy.
- Published in:
- Clinical Cardiology, 1991, v. 14, n. 5, p. 411, doi. 10.1002/clc.4960140509
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- Publication type:
- Article
Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 298, doi. 10.1002/humu.1380010406
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- Publication type:
- Article
Autosomal recessive congenital cerebellar hypoplasia.
- Published in:
- Clinical Genetics, 1985, v. 27, n. 4, p. 373, doi. 10.1111/j.1399-0004.1985.tb02279.x
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- Publication type:
- Article
Preaxial polydactyly type 4: variability in a large kindred.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 3, p. 267, doi. 10.1111/j.1399-0004.1984.tb01988.x
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- Publication type:
- Article
Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression.
- Published in:
- Clinical Genetics, 1983, v. 24, n. 5, p. 365, doi. 10.1111/j.1399-0004.1983.tb00087.x
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- Publication type:
- Article
Ganglioside G.
- Published in:
- Clinical Genetics, 1977, v. 11, n. 2, p. 171, doi. 10.1111/j.1399-0004.1977.tb01296.x
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- Publication type:
- Article
Segregation within a family of two mutant alleles for hexosaminidase A.
- Published in:
- Clinical Genetics, 1976, v. 9, n. 5, p. 540, doi. 10.1111/j.1399-0004.1976.tb01609.x
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- Publication type:
- Article
Mosaic tetraploidy in a two-year-old female.
- Published in:
- Clinical Genetics, 1974, v. 6, n. 3, p. 221, doi. 10.1111/j.1399-0004.1974.tb00655.x
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- Publication type:
- Article