Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 1
Results: 19
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.
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- Human Genetics, 2000, v. 107, n. 1, p. 83, doi. 10.1007/s004390050015
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- Article
Microscopic assessment of pronuclear embryos is not definitive.
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- Human Genetics, 2000, v. 107, n. 1, p. 62, doi. 10.1007/s004390050012
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- Article
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.
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- Human Genetics, 2000, v. 107, n. 1, p. 89, doi. 10.1007/s004390050017
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- Article
Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence.
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- Human Genetics, 2000, v. 107, n. 1, p. 86, doi. 10.1007/s004390050016
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- Article
Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.
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- Human Genetics, 2000, v. 107, n. 1, p. 51, doi. 10.1007/s004390050010
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- Article
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours.
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- Human Genetics, 2000, v. 107, n. 1, p. 33, doi. 10.1007/s004390050007
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- Article
Familial typical migraine: significant linkage and localization of a gene to Xq24–28.
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- Human Genetics, 2000, v. 107, n. 1, p. 18, doi. 10.1007/s004390050004
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- Article
Characterization and localization of human COX17, a gene involved in mitochondrial copper transport.
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- Human Genetics, 2000, v. 107, n. 1, p. 69, doi. 10.1007/s004390050013
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- Article
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.
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- Human Genetics, 2000, v. 107, n. 1, p. 40, doi. 10.1007/s004390050008
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- Article
Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin.
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- Human Genetics, 2000, v. 107, n. 1, p. 28, doi. 10.1007/s004390050006
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- Article
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
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- Human Genetics, 2000, v. 107, n. 1, p. 7, doi. 10.1007/s004390050002
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- Article
Inheritance of heart rate variability: the kibbutzim family study.
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- 2000
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- Erratum
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies.
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- 2000
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- Erratum
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.
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- Human Genetics, 2000, v. 107, n. 1, p. 75, doi. 10.1007/s004390050014
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- Article
Effect of nonsense mutations on PTEN mRNA stability.
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- Human Genetics, 2000, v. 107, n. 1, p. 24, doi. 10.1007/s004390050005
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- Article
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
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- Human Genetics, 2000, v. 107, n. 1, p. 12, doi. 10.1007/s004390050003
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- Article
Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort.
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- Human Genetics, 2000, v. 107, n. 1, p. 58, doi. 10.1007/s004390050011
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- Article
MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions.
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- Human Genetics, 2000, v. 107, n. 1, p. 45, doi. 10.1007/s004390050009
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- Article
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
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- Human Genetics, 2000, v. 107, n. 1, p. 1, doi. 10.1007/s004390050001
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- Article