著者検索結果

1

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Medical genetics: advances in brief: Editorial: our educational challenge

著者: Flinter, Frances
出版事項 1994

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Artigo

2

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Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla

著者: Flinter, Frances
出版事項 1994

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Artigo

3

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Medical genetics: advances in brief: A healthy male with compound and double heterozygosities for ΔF508, F508C and M470V in exon 10 of the cystic fibrosis gene

著者: Flinter, Frances
出版事項 1994

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Artigo

4

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Medical genetics: advances in brief: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

著者: Flinter, Frances
出版事項 1994

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Artigo

5

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Medical genetics: advances in brief: Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)(n) repeat variation and selection against extreme ex...

著者: Flinter, Frances
出版事項 1994

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Artigo

6

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Medical genetics: advances in brief: Huntington disease without CAG expansion: phenocopies or errors in assignment?

著者: Flinter, Frances
出版事項 1994

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Artigo

7

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Medical genetics: advances in brief: Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardati...

著者: Flinter, Frances
出版事項 1998

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Artigo

8

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Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

著者: Flinter, Frances
出版事項 1997

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Artigo

9

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Medical genetics: advances in brief: Population genetics of BRCA1 and BRCA2

著者: Flinter, Frances
出版事項 1997

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Artigo

10

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Hereditary Kidney Diseases

著者: Flinter, Frances
出版事項 1998

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Artigo

11

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Medical genetics: advances in brief: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-ge...

著者: Flinter, Frances
出版事項 1998

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Artigo

12

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Medical genetics: advances in brief: Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

著者: Flinter, Frances
出版事項 1998

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Artigo

13

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Medical genetics: advances in brief: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients

著者: Flinter, Frances
出版事項 1995

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Artigo

14

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Medical genetics: advances in brief: Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy

著者: Flinter, Frances
出版事項 1996

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Artigo

15

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Medical genetics: advances in brief: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation tes...

著者: Flinter, Frances
出版事項 1995

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Artigo

16

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Medical genetics: advances in brief: Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region

著者: Flinter, Frances
出版事項 1995

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Artigo

17

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Medical genetics: advances in brief: Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence

著者: Flinter, Frances
出版事項 1996

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Artigo

18

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Medical genetics: advances in brief: FRAXE expansion is not a common etiological factor among developmentally delayed males

著者: Flinter, Frances
出版事項 1995

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Artigo

19

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Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1

著者: Flinter, Frances
出版事項 1994

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Artigo

20

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Medical genetics: advances in brief: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 ca...

著者: Flinter, Frances
出版事項 1994

全文の入手

Artigo

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