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Volume 4; Issue 1
Main
Human Molecular Genetics
Volume 4; Issue 1
Human Molecular Genetics
Volume 4; Issue 1
1
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
Monckton, D. G.
,
Wong, L.-J. C.
,
Ashizawa, T.
,
Caskey, C. T.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 7.72 MB
Your tags:
english, 1995
2
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia
VoRechovsky, I.
,
Vihinen, M.
,
de Saint Basile, G.
,
Honsova, S.
,
Hammarstrom, L.
,
Muller, S.
,
Nilsson, L.
,
Fischer, A.
,
Smith, C.I.E.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.94 MB
Your tags:
english, 1995
3
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Carmi, R.
,
Rokhlina, T.
,
Kwitek-Black, A. E.
,
Elbedour, K.
,
Nishimura, D.
,
Stone, E. M.
,
Sheffield, V. C.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.85 MB
Your tags:
english, 1995
4
A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability
P.Leeflang, E.
,
Arnhelm, N.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 1995
5
Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers
J.Bell, C.
,
L.Budarf, M.
,
W.Nieuwenhuijsen, B.
,
L.Barnoski, B.
,
H.Buetow, K.
,
Campbell, K.
,
M.E.Colbert, A.
,
Collins, J.
,
Daly, M.
,
R.Desjardins, P.
,
DeZwaan, T.
,
Eckman, B.
,
Foote, S.
,
Hart, K.
,
Hies
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 6.31 MB
Your tags:
english, 1995
6
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer--Giedion syndrome
Ludecke, H.-J.
,
J.Wagner, M.
,
Nardmann, J.
,
Pillo, B. L.
,
E.Parrish, J.
,
J.Willems, P.
,
A.Haan, E.
,
Frydman, M.
,
J.H.Hamers, G.
,
E.Weils, D.
,
Horsthemke, B.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.85 MB
Your tags:
english, 1995
7
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
Graaff, E. d.
,
Rouillard, P.
,
J.Willems, P.
,
P.T.Smits, A.
,
Rousseau, F.
,
A.Oostra, B.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.01 MB
Your tags:
english, 1995
8
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations
Verderio, E.
,
Cavadini, P.
,
Montermini, L.
,
Wang, H.
,
Lamantea, E.
,
Finocchiaro, G.
,
DiDonato, S.
,
Gellera, C.
,
Taroni, F.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 6.07 MB
Your tags:
english, 1995
9
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
Hendrickx, J.
,
Coucke, P.
,
Dams, E.
,
Lee, P.
,
Odievre, M.
,
Corbeel, L.
,
Fernandes, J. F.
,
Willems, P. J.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 612 KB
Your tags:
english, 1995
10
High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons
Sainz, J.
,
Figueroa, K.
,
E.Baser, M.
,
Mautner, V.-F.
,
Pulst, S.-M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.32 MB
Your tags:
english, 1995
11
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region
F.Davles, A.
,
J.Stephens, R.
,
G.OIavesen, M.
,
Heather, L.
,
J.Dixon, M.
,
Magee, A.
,
Flinter, F.
,
Ragoussis, J.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.99 MB
Your tags:
english, 1995
12
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
Sankila, E.-M.
,
Pakarinen, L.
,
Kaariainen, H.
,
Aittomaki, K.
,
Karjalainen, S.
,
Sistonen, P.
,
de la Chapelle, A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 446 KB
Your tags:
english, 1995
13
Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents
Thacker, J.
,
E.Tambini, C.
,
J.Simpson, P.
,
Tsui, L.-C.
,
W.Scherer, S.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.93 MB
Your tags:
english, 1995
14
Deletions of both 5(IV) and 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours
Heidet, L.
,
Dahan, K.
,
Zhou, J.
,
Xu, Z.
,
Cochat, P.
,
Gould, J. D. M.
,
Leppig, K. A.
,
Proesmans, W.
,
Guyot, C.
,
Guillot, M.
,
Roussel, B.
,
Tryggvason, K.
,
Grunfeld, J.-P.
,
Gubler, M.-C.
,
Antignac, C.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 749 KB
Your tags:
english, 1995
15
Author index
Journal:
Human Molecular Genetics
Year:
1995
File:
PDF, 48 KB
Your tags:
1995
16
Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas
M.Shanley, S.
,
Dawkins, H.
,
J.Wainwright, B.
,
Wicking, C.
,
Heenan, P.
,
Eldon, M.
,
Searle, J.
,
Chenevlx-Trench, G.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.99 MB
Your tags:
english, 1995
17
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
Brown, D. M.
,
Vandenburgh, K.
,
Kimura, A. E.
,
Weingeist, T. A.
,
Sheffield, V. C.
,
Stone, E. M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.02 MB
Your tags:
english, 1995
18
Deficiency of lecithin: cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
Wlebusch, H.
,
Cullen, p.
,
S.Owen, J.
,
Collins, D.
,
S.Sharp, P.
,
Funke, H.
,
Assmann, G.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.71 MB
Your tags:
english, 1995
19
Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population
Morell, R.
,
Liang, Y.
,
Asher, J. H.
,
Weber, J. L.
,
Hinnant, J. T.
,
Winata, S.
,
Arhya, I. N.
,
Friedman, T. B.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 695 KB
Your tags:
english, 1995
20
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family
Mundlos, S.
,
Mulliken, J. B.
,
Abramsom, D. L.
,
Warman, M. L.
,
Knoll, J. H. M.
,
Olsen, B. R.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 526 KB
Your tags:
english, 1995
21
Analysis of 2166 clones from a human colorectal cancer cDNA library by partial sequencing
Frigerio, J.-M.
,
Berthezene, P.
,
Garrido, P.
,
Barthellemy, E. O. S.
,
Vasseur, S.
,
Sastre, B.
,
Seleznieff, I.
,
Dagorn, J.-C.
,
lovanna, J. L.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.43 MB
Your tags:
english, 1995
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