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Volume 4; Issue 5
Main
Human Molecular Genetics
Volume 4; Issue 5
Human Molecular Genetics
Volume 4; Issue 5
1
Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene
Danglot, G.
,
Regnler, V.
,
Fauvet, D.
,
Vassal, G.
,
Kujas, M.
,
Bernheim, A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.91 MB
Your tags:
english, 1995
2
Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease
Maruyama, H.
,
Nakamura, S.
,
Matsuyama, Z.
,
Sakai, T.
,
Doyu, M.
,
Sobue, G.
,
Seto, M.
,
Tsujihata, M.
,
Oh-i, T.
,
Nishio, T.
,
Sunohara, N.
,
Takahashi, R.
,
Hayashi, M.
,
Nishino, I.
,
Ohtake, T.
,
Oda, T.
,
Ni
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 632 KB
Your tags:
english, 1995
3
High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes
Florijn, R. J.
,
Bonden, L. A. J.
,
Vrolijk, H.
,
Wiegant, J.
,
Vaandrager, J.-W.
,
Bass, F.
,
den Dunnen, J. T.
,
Tanke, H. J.
,
van Ommen, G.-J. B.
,
Raap, A. K.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.99 MB
Your tags:
english, 1995
4
Molecular analysis of type II 3 -hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 -hydroxysteroid dehydrogenase deficiency
Tajima, T.
,
Fujieda, K.
,
Nakae, J.
,
Shinohara, N.
,
Yoshimoto, M.
,
Baba, T.
,
Kinoshita, E.-i.
,
Igarashl, Y.
,
Oomura, T.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.17 MB
Your tags:
english, 1995
5
Mitochondrial DNA diversity in the Kuna Amerinds of Panama
Batista, O.
,
Kolman, C. J.
,
Bermingham, E.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 868 KB
Your tags:
english, 1995
6
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
Lunt, P. W.
,
Jardine, P. E.
,
Koch, M. C.
,
Maynard, J.
,
Osborn, M.
,
Williams, M.
,
Harper, P. S.
,
Upadhyaya, M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.36 MB
Your tags:
english, 1995
7
A novel dystrophin isoform is required for normal retinal electrophysiology
D'Souza, V. N.
,
Man, N. t.
,
Morris, G. E.
,
Karges, W.
,
Pillers, D.-A. M.
,
Ray, P. N.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 5.17 MB
Your tags:
english, 1995
8
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
Glaser, B.
,
Chiu, K. C.
,
Liu, L.
,
Anker, R.
,
Nestorowicz, A.
,
Cox, N. J.
,
Landau, H.
,
Nurit, K.
,
Thornton, P. S.
,
Stanley, C. A.
,
Cerasl, E.
,
Baker, L.
,
Donis-Keller, H.
,
Permutt, M. A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.75 MB
Your tags:
english, 1995
9
Characterization of FMR1 proteins isolated from different tissues
Verhelj, C.
,
de Graaff, E.
,
Bakker, C. E.
,
Willemsen, R.
,
Willems, P. J.
,
Meijer, N.
,
Galjaard, H.
,
Reuser, A. J. J.
,
Oostra, B. A.
,
Hoogeveen, A. T.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 7.12 MB
Your tags:
english, 1995
10
Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus
Jansen, G.
,
Bachner, D.
,
Coerwinkel, M.
,
Wormskamp, N.
,
Hameister, H.
,
Wieringa, B.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 6.88 MB
Your tags:
english, 1995
11
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
Angrist, M.
,
Bolk, S.
,
Thiel, B.
,
Puffenberger, E. G.
,
Hofstra, R. M.
,
Buys, C. H. C. M.
,
Cass, D. T.
,
Chakravarti, A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.49 MB
Your tags:
english, 1995
12
Author index
Journal:
Human Molecular Genetics
Year:
1995
File:
PDF, 57 KB
Your tags:
1995
13
A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
Kivirikko, S.
,
McGrath, J. A.
,
Baudoin, C.
,
Aberdam, D.
,
Ciatti, S.
,
Dunnill, M. G. S.
,
McMillan, J. R.
,
Eady, R. A. J.
,
Ortonne, J.-P.
,
Meneguzzi, G.
,
Ultto, J.
,
Christiano, A. M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.58 MB
Your tags:
english, 1995
14
Sex-specific meiotic recombination in the Prader--Willi/Angelman syndrome imprinted region
Robinson, W. P.
,
Lalande, M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 571 KB
Your tags:
english, 1995
15
Reverse replication timing for the XIST gene in human fibroblasts
R. Scott, H.
,
Theresa K., C.
,
Stanley M., G.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.16 MB
Your tags:
english, 1995
16
The human Y chromosome homologue of XG: transcription of a naturally truncated gene
Weller, P. A.
,
Critcher, R.
,
Goodfellow, P. N.
,
German, J.
,
Ellis, N. A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.55 MB
Your tags:
english, 1995
17
A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q
Vincent, P.
,
Plauchu, H.
,
Hazan, J.
,
Faure, S.
,
Weissenbach, J.
,
Godet, J.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 423 KB
Your tags:
english, 1995
18
Corrigendum: SSC polymorphisms in interleukin genes
Borish, L.
,
Mascali, J. J.
,
Klinnert, M.
,
Leppert, M.
,
Rosenwasser, L. J.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 57 KB
Your tags:
english, 1995
19
Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region
Bergen, A. A. B.
,
Brink, J. B. t.
,
Riemslag, F.
,
Schuurman, E. J. M.
,
Tijmes, N.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 303 KB
Your tags:
english, 1995
20
Nucleotide sequence analysis of the apolipoprotein B 3' VNTR
Ellsworth, D. L.
,
Shriver, M. D.
,
Boerwinkle, E.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 716 KB
Your tags:
english, 1995
21
A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region
Lamour, V.
,
Lecluse, Y.
,
Desmaze, C.
,
Spector, M.
,
Bodescot, M.
,
Aurias, A.
,
Osley, M. A.
,
Lipinski, M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 5.46 MB
Your tags:
english, 1995
22
No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease
Liddell, M. B.
,
Bayer, A. J.
,
Owen, M. J.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.19 MB
Your tags:
english, 1995
23
Erratum: Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease
Telenius, H.
,
Almqvist, E.
,
Kremer, B.
,
Spence, N.
,
Squitieri, F.
,
Nichol, K.
,
Grandell, U.
,
Starr, E.
,
Benjamin, C.
,
Castaldo, I.
,
Calabrese, O.
,
Anvret, M.
,
Goldberg, Y. P.
,
Hayden, M. R.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 57 KB
Your tags:
english, 1995
24
Human cell mutants with very low mitochondrial DNA copy number ( d)
Vaillant, F.
,
Nagley, P.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 9.00 MB
Your tags:
english, 1995
25
Corrigendum: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis
Kobayashi, K.
,
Mizuno, K.
,
Hida, A.
,
Komaki, R.
,
Tomita, K.
,
Matsushita, I.
,
Namiki, M.
,
Iwamoto, T.
,
Tamura, S.
,
Minowada, S.
,
Nakahori, Y.
,
Nakagome, Y.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 57 KB
Your tags:
english, 1995
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