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Volume 3; Issue 11
Main
Human Molecular Genetics
Volume 3; Issue 11
Human Molecular Genetics
Volume 3; Issue 11
1
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia
J.WIIkln, Douglas
,
Bogaert, Ray
,
Lachman, Ralph S.
,
L.Rimoin, David
,
Eyre, David R.
,
Cohn, Daniel H.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.77 MB
Your tags:
english, 1994
2
Two 5q13 simple tandem repeat loci are in linkage disequilibrium with Type 1 spinal muscular atrophy
D.McLean, Michael
,
Roy, Natalie
,
E.MacKenzle, Alexander
,
Salih, Maysoon
,
H.M.Burghes, Arthur
,
Simard, Louise
,
G.Kornelukw, Robert
,
lkeda, Joh-E.
,
Surh, Linda
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.52 MB
Your tags:
english, 1994
3
RET proto-oncogene mutations in French MEN 2A and FMTC families
Schuffeneker, Isabelle
,
Billaud, Marc
,
Calender, Alain
,
Chambe, Béatrice
,
Ginet, Nicole
,
Calmettes, Claude
,
Modlglian, Elisabeth
,
Lenolr, Gilbert M.
,
GETC,
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 470 KB
Your tags:
english, 1994
4
A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1
Neuhausen, S.L.
,
Swensen, J.
,
Miki, Y.
,
Llu, Q.
,
Tavtiglan, S.
,
Shattuck-Eidens, D.
,
Kamb, A.
,
Hobbs, M.R.
,
Gingrich, J.
,
Shizuya, H.
,
Kim, U.-J.
,
Cochran, C.
,
Futreal, P.A.
,
Wiseman, R.W.
,
Lynch, H.T
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.35 MB
Your tags:
english, 1994
5
Cloning and characterization of a new human Xq13 gene, encoding a putative helicase
Stayton, Carol L.
,
Dabovic, Branka
,
Gulisano, Massimo
,
Gecz, Jozef
,
Broccoll, VanIa
,
Glovanazzl, Serenella
,
Bossolasco, Michela
,
Monaco, Lucia
,
Rastan, Sohalla
,
BoncInelli, Edoardo
,
Blanchil, Marco E.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.68 MB
Your tags:
english, 1994
6
E-selectin polymorphism and atherosclerosis: an association study
Wenze, Katrin
,
Felix, Stephan
,
KIeberi, Franz X.
,
Brachold, Raff
,
Menke, Thomas
,
Schattke, Sebastian
,
Schulte, Karl L.
,
Gläser, Christiane
,
Rohde, Klaus
,
Baumann, Gert
,
Speer, Astrid
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.15 MB
Your tags:
english, 1994
7
The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion
Spelbrink, Johannes N.
,
Van Oost, Bernard A.
,
Bogert, Coby Van den
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 5.04 MB
Your tags:
english, 1994
8
Rapid identification of gene sequences for transcriptional map assembly by direct cDNA screening of genomic reference librairies
Lawrence, Brenda J.
,
Schwabe, Wolfgang
,
Kioschls, Petra
,
Coy, Johannes F.
,
Poustka, Annemarie
,
Brennan, Miles B.
,
Hochgeschwender, Ute
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 1994
9
A frameshift mutation in the mouse α 1 glycine receptor gene ( Gira1 ) results in progressive neurological symptoms and juvenile death
Buckwalter, Marion S.
,
Cook, Susan A.
,
Davisson, Muriel T.
,
White, W. Frost
,
Camper, Sally A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.99 MB
Your tags:
english, 1994
10
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother
Casademont, Jordl
,
Barrientos, Antonal
,
Cardellach, Francese
,
Rötlg, Agnes
,
Grau, Josep-Maria
,
Montoya, Jullo
,
Beltlran, Belen
,
Cervantes, Francisco
,
Rozman, Cirll
,
Estlvill, Xavier
,
Urbano-Marque, Al
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.96 MB
Your tags:
english, 1994
11
The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase
A.Jones, Karen
,
M.Black, Donald
,
A.Brown, Melissa
,
L.Griffiths, Beatrice
,
M.Nicolai, Hans
,
A.Chambers, Julie
,
Bonjardim, Marisa
,
Xu, Chun-Fang
,
Boyd, Marie
,
MeFariane, Robert
,
Korn, Bernhard
,
Poustka,
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.68 MB
Your tags:
english, 1994
12
Human APC gene expression in rodent colonic epithelium in vivo using liposomal gene delivery
Westbrook, Carol A.
,
Chmura, Steven J.
,
Arenas, Richard B.
,
Kim, Su Young
,
Otto, Glen
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 5.46 MB
Your tags:
english, 1994
13
Accumulation of genetic alterations during esophageal carcinogenesis
Mori, Takahiro
,
Yanagisawa, Aklo
,
Yato,
,
Mlura, Koh
,
Nishihira, Tetsuro
,
Mori, Shozo
,
Nakamura, Yusuke
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.53 MB
Your tags:
english, 1994
14
Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction
Lertrit, Patcharee
,
Kapsa, Robert M.L.
,
Bernadette Jean-FRANCOLS, M.J.
,
Thyagaraian, Dominic
,
Noer, A.Salfuddin
,
Marzukil, Sangkopt
,
Byrne, Edward
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 780 KB
Your tags:
english, 1994
15
Cloning the shared components of complex DNA resources
Brookes, Anthony J.
,
SIorach, Euan M.
,
Morrison, Karen E.
,
Qureshl, Safia J.
,
Blake, Derek
,
Davies, Kay
,
Porteous, David J.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.61 MB
Your tags:
english, 1994
16
PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis
Kobayashi, Kazuhiro
,
Mlzuno, Kunihiko
,
Hida, Akiko
,
Komakl, Rie
,
Tomita, Keiko
,
Matsushita, Ikumi
,
Namlki, Mikio
,
Iwamoto, Teruaki
,
Tamura, Shohzoh
,
Minowada, Shlgeru
,
Nakahori, Yutaka
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 1994
1
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