Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 12
Results: 41
Subject Index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2425
- Publication type:
- Article
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2199
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- Publication type:
- Article
Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2189
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- Publication type:
- Article
Mutation analysis of the ROM1 gene in retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2424
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- Publication type:
- Article
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2436
- Publication type:
- Article
Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2251
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- Publication type:
- Article
Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2245
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- Publication type:
- Article
Stability of the Huntington disease (CAG)n repeat in a late-onset form occurring on the Island of Crete.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2239
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- Publication type:
- Article
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2233
- Publication type:
- Article
Non-disjunction in human sperm: evidence for an effect of increasing paternal age.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2227
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- Publication type:
- Article
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2219
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- Publication type:
- Article
Highly conserved 3′ UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2209
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- Publication type:
- Article
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2421
- Publication type:
- Article
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2417
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- Publication type:
- Article
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2415
- By:
- Publication type:
- Article
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2411
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- Publication type:
- Article
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2407
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- Publication type:
- Article
Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2403
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- Publication type:
- Article
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2399
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- Publication type:
- Article
Linkage of congenital hereditary endothelial dystrophy to chromosome 20.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2395
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- Publication type:
- Article
Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2423
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- Publication type:
- Article
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2391
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- Publication type:
- Article
Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2387
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- Publication type:
- Article
Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2379
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- Publication type:
- Article
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2373
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- Publication type:
- Article
Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2327
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- Publication type:
- Article
Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2355
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- Publication type:
- Article
Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2347
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- Publication type:
- Article
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2339
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- Publication type:
- Article
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2335
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- Publication type:
- Article
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2363
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- Publication type:
- Article
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2319
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- Publication type:
- Article
Breakpoint characterization of the ret/PTC oncogene in human papillary thyroid carcinoma.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2313
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- Publication type:
- Article
RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2307
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- Publication type:
- Article
Murine Brca1: sequence and significance for human missense mutations.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2275
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- Publication type:
- Article
Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2287
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- Publication type:
- Article
Liposome-mediated gene transfer and expression via the skin.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2279
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- Publication type:
- Article
T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2299
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- Publication type:
- Article
Mutation analysis of the TSC2 gene in an African-American family.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2295
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- Publication type:
- Article
Mouse Brca1: localization, sequence analysis and identification of evolutionarily conserved domains.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2265
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- Publication type:
- Article
Distinct transcription start sites generate two forms of BRCA1 mRNA.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2259
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- Publication type:
- Article