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Volume 10; Issue 1
Main
Nature Genetics
Volume 10; Issue 1
Nature Genetics
Volume 10; Issue 1
1
Challenging genomic integrity
Journal:
Nature Genetics
Year:
1995
File:
PDF, 241 KB
Your tags:
1995
2
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
Trottier, Yvon
,
Devys, Didier
,
Imbert, Georges
,
Saudou, Frédéric
,
An, Isabelle
,
Lutz, Yves
,
Weber, Chantal
,
Agid, Yves
,
Hirsch, Etienne C.
,
Mandel, Jean-Louis
Journal:
Nature Genetics
Year:
1995
File:
PDF, 1018 KB
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1995
3
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
Rousseau, Francis
,
Saugier, Pascale
,
Merrer, Martine Le
,
Munnich, Arnold
,
Delezoide, Anne-Lise
,
Maroteaux, Pierre
,
Bonaventure, Jacky
,
Narcy, Françoise
,
Sanak, Marek
Journal:
Nature Genetics
Year:
1995
File:
PDF, 394 KB
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1995
4
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
Blom, H.J.
,
Milos, R.
,
Goyette, P.
,
Sheppard, C.A.
,
Matthews, R.G.
,
Boers, G.J.H.
,
den Heijer, M.
,
Kluijtmans, L.A.J.
,
van den Heuve, L.P.
,
Frosst, P.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 442 KB
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1995
5
Mutations associated with familial melanoma impair p16INK4 function
Ranade, Koustubh
,
Hussussian, Christopher J.
,
Sikorski, Robert S.
,
Varmus, Harold E.
,
Goldstein, Alisa M.
,
Tucker, Margaret A.
,
Serrano, Manuel
,
Hannon, Gregory J.
,
Beach, David
,
Dracopoli, Nicholas C
Journal:
Nature Genetics
Year:
1995
File:
PDF, 435 KB
Your tags:
1995
6
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
Phillips, H.A.
,
Scheffer, I.E.
,
Berkovic, S.F.
,
Hollway, G.E.
,
Sutherland, G.R.
,
Mulley, J.C.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 219 KB
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1995
7
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A
Bi, L.
,
Lawler, A.M.
,
Antonarakis, S.E.
,
High, K.A.
,
Gearhart, J.D.
,
Kazazian, H.H.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 448 KB
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1995
8
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
Bassi, Maria T.
,
Schiaffino, M. Vittoria
,
Renieri, Alessandra
,
Nigris, Filomena De
,
Galli, Lucia
,
Bruttini, Mirella
,
Gebbia, Marinella
,
Bergen, Arthur A.B.
,
Lewis, Richard A.
,
Ballabio, Andrea
Journal:
Nature Genetics
Year:
1995
File:
PDF, 870 KB
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1995
9
A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
Reymer, Paul W.A.
,
Gagné, Eric
,
Groenemeyer, Bjorn E.
,
Zhang, Hanfang
,
Forsyth, Ian
,
Jansen, Hans
,
Seidell, Jaap C.
,
Kromhout, Daan
,
Lie, Kong E.
,
Kastelein, Johannes
Journal:
Nature Genetics
Year:
1995
File:
PDF, 608 KB
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1995
10
Gain of glutamines, gain of function?
Housman, David
Journal:
Nature Genetics
Year:
1995
File:
PDF, 263 KB
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1995
11
Loss of function effect of RET mutations causing Hirschsprung disease
Pasini, Barbara
,
Borrello, Maria Grazia
,
Greco, Angela
,
Bongarzone, Italia
,
Luo, Yin
,
Mondellini, Piera
,
Alberti, Luisella
,
Miranda, Claudia
,
Arighi, Elena
,
Bocciardi, Renata
Journal:
Nature Genetics
Year:
1995
File:
PDF, 790 KB
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1995
12
Partial epilepsy: chinks in the armour
Ryan, Stephen G.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 468 KB
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1995
13
Evidence for a susceptibility locus for schizophrenia on chromosome 6pter–p22
Wang, Shengbiao
,
Sun, Cui-e
,
Walczak, Cynthia A.
,
Ziegle, Janet S.
,
Kipps, Barbara R.
,
Goldin, Lynn R.
,
Diehl, Scott R.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 595 KB
Your tags:
1995
14
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination
Enriquez, José Antonio
,
Chomyn, Anne
,
Attardi, Giuseppe
Journal:
Nature Genetics
Year:
1995
File:
PDF, 1.09 MB
Your tags:
1995
15
Localization of a gene for partial epilepsy to chromosome 10q
Ottman, Ruth
,
Risch, Neil
,
Hauser, W. Allen
,
Pedley, Timothy A.
,
Lee, Joseph H.
,
Barker-Cummings, Christie
,
Lustenberger, Anita
,
Nagle, Keith J.
,
Lee, Kyusang S.
,
Scheuer, Mark L.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 478 KB
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1995
16
The low down on lipoprotein lipase
Funke, Harald
,
Assmann, Gerd
Journal:
Nature Genetics
Year:
1995
File:
PDF, 292 KB
Your tags:
1995
17
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
Andersen, Peter M.
,
Nilsson, Peter
,
Ala-Hurula, Veli
,
Keränen, Marja-Leena
,
Tarvainen, Ilkka
,
Haltia, Tuula
,
Nilsson, Lotta
,
Binzer, Michael
,
Forsgren, Lars
,
Marklund, Stefan L.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 551 KB
Your tags:
1995
18
Comparative sequence analysis of the human and pufferfish Huntington's disease genes
Baxendale, Sarah
,
Abdulla, Sarah
,
Elgar, Greg
,
Buck, David
,
Berks, Mary
,
Micklem, Gos
,
Durbin, Richard
,
Bates, Gill
,
Brenner, Sydney
,
Beck, Stephan
Journal:
Nature Genetics
Year:
1995
File:
PDF, 1.42 MB
Your tags:
1995
19
The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neurons
Hirotsune, S.
,
Takahara, T.
,
Sasaki, N.
,
Hirose, K.
,
Yoshiki, A.
,
Ohashi, T.
,
Kusakabe, M.
,
Murakami, Y.
,
Muramatsu, M.
,
Watanabe, S.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 910 KB
Your tags:
1995
20
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1
Benomar, A.
,
Krols, L.
,
Stevanin, G.
,
Cancel, G.
,
LeGuern, E.
,
David, G.
,
Ouhabi, H.
,
Martin, J.-J.
,
Dürr, A.
,
Zaim, A.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 421 KB
Your tags:
1995
21
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
Gouw, Launce G.
,
Kaplan, Craig D.
,
Haines, John H.
,
Digre, Kathleen B.
,
Rutledge, S. Lane
,
Matilla, Antoni
,
Leppert, Mark
,
Zoghbi, Huda Y.
,
Ptácek, Louis J.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 460 KB
Your tags:
1995
22
Nemaline myopathy mechanisms
Reinach, Fernando C.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 113 KB
Your tags:
1995
23
Linkage findings in bipolar disorder
Gurling, Hugh
,
Smyth, Ciaran
,
Kalsi, Gursharan
,
Moloney, Eamon
,
Rifkin, Larry
,
O'Neill, Jane
,
Murphy, Patrice
,
Curtis, David
,
Petursson, Hannes
,
Brynjolfsson, Jon
Journal:
Nature Genetics
Year:
1995
File:
PDF, 214 KB
Your tags:
1995
24
Single–minded and Down syndrome?
Chen, Haiming
,
Chrast, Roman
,
Rossier, Colette
,
Gos, Arnaud
,
Antonarakis, Stylianos E.
,
Kudoh, Jun
,
Yamaki, Akiko
,
Shindoh, Nobuaki
,
Maeda, Hideto
,
Minoshima, Shinsei
Journal:
Nature Genetics
Year:
1995
File:
PDF, 316 KB
Your tags:
1995
25
Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
Servadio, Antonio
,
Koshy, Beena
,
Armstrong, Dawna
,
Antalffy, Barbara
,
Orr, Harry T.
,
Zoghbi, Huda Y.
Journal:
Nature Genetics
Year:
1995
File:
PDF, 705 KB
Your tags:
1995
26
Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain
Yazawa, Ikuru
,
Nukina, Nobuyuki
,
Hashida, Hideji
,
Goto, Jun
,
Yamada, Masao
,
Kanazawa, Ichiro
Journal:
Nature Genetics
Year:
1995
File:
PDF, 716 KB
Your tags:
1995
27
CpNpG methylation in mammalian cells
Clark, Susan J.
,
Harrison, Janet
,
Frommer, Marianne
Journal:
Nature Genetics
Year:
1995
File:
PDF, 959 KB
Your tags:
1995
1
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