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Volume 110; Issue 1
Main
Human Genetics
Volume 110; Issue 1
Human Genetics
Volume 110; Issue 1
1
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes
Aoi Nakano
,
Sheau-Chiou Chao
,
Leena Pulkkinen
,
Dedee Murrell
,
Leena Bruckner-Tuderman
,
Ellen Pfendner
,
Jouni Uitto
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 299 KB
Your tags:
english, 2002
2
Rate of homologous chromosome bivalents in spermatocytes may predict completion of spermatogenesis in azoospermic men
Leah Yogev
,
Ronni Gamzu
,
Gedalia Paz
,
Sandra Kleiman
,
Amnon Botchan
,
Ron Hauser
,
Haim Yavetz
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 38 KB
Your tags:
english, 2002
3
Ulrich R. Hengge, Beatrix Volc-Platzer (eds): The skin and gene therapy
Rudolf Happle
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 11 KB
Your tags:
english, 2002
4
Joyce C. Harper, Joy D.A. Delhanty, Alan H. Handyside (eds): Preimplantation genetic diagnosis
Frances Flinter
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2002
5
The mutation spectrum of the facilitative glucose transporter geneSLC2A2 (GLUT2)in patients with Fanconi-Bickel syndrome
René Santer
,
Sebastian Groth
,
Martina Kinner
,
Anja Dombrowski
,
Gerard T. Berry
,
Johannes Brodehl
,
James V. Leonard
,
Shimon Moses
,
Svante Norgren
,
Flemming Skovby
,
Reinhard Schneppenheim
,
Beat Steinman
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 61 KB
Your tags:
english, 2002
6
Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate
Luca Scapoli
,
Marcella Martinelli
,
Furio Pezzetti
,
Francesco Carinci
,
Maria Bodo
,
Mauro Tognon
,
Paolo Carinci
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2002
7
Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese
Lung-An Hsu
,
Yu-Lin Ko
,
Kuang-Hung Hsu
,
Yu-Hsien Ko
,
Ying-Shiung Lee
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2002
8
Critique of “Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension” by Rutherford et al., Human Genetics, published online September 2001
Brian J. Morris
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 19 KB
Your tags:
english, 2002
9
Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland
Vesa Juvonen
,
Satu-Maria Kulmala
,
Jaakko Ignatius
,
Maila Penttinen
,
Marja-Liisa Savontaus
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 50 KB
Your tags:
english, 2002
10
Cytogenetic mapping of a novel locus for type
Angelo Selicorni
,
Silvana Guerneri
,
Antonia Ratti
,
Antonio Pizzuti
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 52 KB
Your tags:
english, 2002
11
A major marker for normal tension glaucoma: association with polymorphisms in theOPA1gene
Tin Aung
,
Louise Ocaka
,
Neil D. Ebenezer
,
Alex G. Morris
,
Michael Krawczak
,
Dawn L. Thiselton
,
Christiane Alexander
,
Marcela Votruba
,
Glen Brice
,
Anne H. Child
,
Peter J. Francis
,
Roger A. Hitchings
,
O
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 100 KB
Your tags:
english, 2002
12
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism
Zigmund Luka
,
Roberto Cerone
,
John A. Phillips
,
Harvey S. Mudd
,
Conrad Wagner
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 144 KB
Your tags:
english, 2002
13
Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum
Hiroshi Honda
,
Norio Miharu
,
Yoko Ohashi
,
Osamu Samura
,
Masayuki Kinutani
,
Tetsuaki Hara
,
Koso Ohama
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 46 KB
Your tags:
english, 2002
14
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to theIBGC1locus on chromosome 14q
Henry Brodaty
,
Philip Mitchell
,
Georgina Luscombe
,
John B. Kwok
,
Renee F. Badenhop
,
Rod McKenzie
,
Peter R. Schofield
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 62 KB
Your tags:
english, 2002
15
Three major lineages of Asian Y
Atsushi Tajima
,
I-Hung Pan
,
Goonnapa Fucharoen
,
Supan Fucharoen
,
Masafumi Matsuo
,
Katsushi Tokunaga
,
Takeo Juji
,
Masanori Hayami
,
Keiichi Omoto
,
Satoshi Horai
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2002
16
Investigation of the functional effect of monoamine oxidase polymorphisms in human brain
J. Balciuniene
,
L. Emilsson
,
L. Oreland
,
U. Pettersson
,
E. Jazin
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 59 KB
Your tags:
english, 2002
17
TheUSH1C216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population
Sevtap Savas
,
Ben Frischhertz
,
Mary Z. Pelias
,
Mark A. Batzer
,
Prescott L. Deininger
,
Bronya J. Keats
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2002
18
Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm
Teruhiko Ito
,
Hirofumi Yasue
,
Michihiro Yoshimura
,
Shota Nakamura
,
Masafumi Nakayama
,
Yukio Shimasaki
,
Eisaku Harada
,
Yuji Mizuno
,
Hiroaki Kawano
,
Hisao Ogawa
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 44 KB
Your tags:
english, 2002
19
Authors response to: Critique of "Chromosome
Lyn R. Griffiths
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 24 KB
Your tags:
english, 2002
20
Acknowledgement to Referees 2001
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 17 KB
Your tags:
english, 2002
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