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Volume 107; Issue 4
Main
Human Genetics
Volume 107; Issue 4
Human Genetics
Volume 107; Issue 4
1
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency
Junko Muroi
,
Tohru Yorifuji
,
Ayumi Uematsu
,
Yosuke Shigematsu
,
Kazumichi Onigata
,
Hiroaki Maruyama
,
Tatsuro Nobutoki
,
Akiko Kitamura
,
Tatsutoshi Nakahata
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2000
2
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure
Anna Marozzi
,
Emanuela Manfredini
,
Maria Tibiletti
,
Daniela Furlan
,
Nicoletta Villa
,
Walter Vegetti
,
Pier Crosignani
,
Enrico Ginelli
,
Raffaella Meneveri
,
Leda Dalprà
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2000
3
Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits
David Comas
,
Francesc Calafell
,
Noufissa Benchemsi
,
Ahmed Helal
,
Gerard Lefranc
,
Mark Stoneking
,
Mark A. Batzer
,
Jaume Bertranpetit
,
Antti Sajantila
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2000
4
In-frame deletions ofBRCA1may define critical functional domains
Elizabeth Rohlfs
,
Christine Chung
,
Qing Yang
,
Cecile Skrzynia
,
Wayne Grody
,
Mark Graham
,
Lawrence Silverman
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 79 KB
Your tags:
english, 2000
5
Molecular analysis of the genotype-phenotype relationship in factor
D. Millar
,
G. Kemball-Cook
,
J. McVey
,
E. Tuddenham
,
A. Mumford
,
G. Attock
,
J. Reverter
,
N. Lanir
,
L. Parapia
,
J. Reynaud
,
E. Meili
,
A. von Felton
,
U. Martinowitz
,
D. Prangnell
,
M. Krawczak
,
D. Cooper
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2000
6
Allelic loss at the neurofibromatosis type
Ralf Gutzmer
,
Rudolf Herbst
,
Susanne Mommert
,
Peter Kiehl
,
Frank Matiaske
,
Arno Rütten
,
Alexander Kapp
,
Jürgen Weiss
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2000
7
Neurofibromatosis type
Roberta Sestini
,
Rossella Vivarelli
,
Paolo Balestri
,
Franco Ammannati
,
Enrico Montali
,
Laura Papi
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 78 KB
Your tags:
english, 2000
8
Genomic structure of the human Ah receptor nuclear translocator gene (hARNT)
Julia Scheel
,
Dieter Schrenk
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 38 KB
Your tags:
english, 2000
9
Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene
Nahid Tayebi
,
Joseph Park
,
Victor Madike
,
Ellen Sidransky
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 82 KB
Your tags:
english, 2000
10
Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID)
Satoru Kumaki
,
Naoto Ishii
,
Masayoshi Minegishi
,
Yoshiyuki Ohashi
,
Ikuko Hakozaki
,
Shigeaki Nonoyama
,
Kohsuke Imai
,
Tomohiro Morio
,
Ikuya Tsuge
,
Yukio Sakiyama
,
Akihiko Miyanoshita
,
Jun-ichi Miura
,
Mi
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 21 KB
Your tags:
english, 2000
11
Age- and tissue-specific variation of X
Andrew Sharp
,
David Robinson
,
Patricia Jacobs
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 147 KB
Your tags:
english, 2000
12
Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in theTNFRSF6gene
Lars Feuk
,
Jonathan Prince
,
Gerome Breen
,
Tesfai Emahazion
,
Andrew Carothers
,
David St Clair
,
Anthony Brookes
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 52 KB
Your tags:
english, 2000
13
Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer
Jon Bergthorsson
,
Gudrun Johannesdottir
,
Adalgeir Arason
,
Kristrun Benediktsdottir
,
Bjarni Agnarsson
,
Joan Bailey-Wilson
,
Elizabeth Gillanders
,
Jeffrey Smith
,
Jeff Trent
,
Rosa Barkardottir
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2000
14
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients
Y.F. Leung
,
L. Baum
,
D.S.C. Lam
,
D.S.P. Fan
,
J.K.H. Chua
,
C.P. Pang
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2000
15
Components of the human spindle checkpoint control mechanism localize specifically to the active centromere on dicentric chromosomes
Richard Saffery
,
Danielle Irvine
,
Belinda Griffiths
,
Paul Kalitsis
,
K. Choo
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2000
16
Molecular analysis of theTSC1andTSC2tumour suppressor genes in sporadic glial and glioneuronal tumours
Lee Parry
,
Julie Maynard
,
Amit Patel
,
Angela Hodges
,
Andreas von Deimling
,
Julian Sampson
,
Jeremy Cheadle
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 90 KB
Your tags:
english, 2000
17
Canine cystinuria: polymorphism in the canineSLC3A1gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
Paula Henthorn
,
Junlong Liu
,
Tanya Gidalevich
,
Jikang Fang
,
Margret Casal
,
Donald Patterson
,
Urs Giger
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 191 KB
Your tags:
english, 2000
18
Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions
Michael Krawczak
,
Nadia Chuzhanova
,
Peter Stenson
,
Bent Johansen
,
Edward Ball
,
David Cooper
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 42 KB
Your tags:
english, 2000
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