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Volume 93; Issue 1
Main
Human Genetics
Volume 93; Issue 1
Human Genetics
Volume 93; Issue 1
1
Ordering markers in the region of the ataxia-telangiectasia gene (11q22-q23) by fluorescence in situ hybridization (FISH) to interphase nuclei
Dorra Cherif
,
Hera Der-Sarkissian
,
Roland Berger
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 2.08 MB
Your tags:
english, 1994
2
Incidence of chromosome 3, 7, 10, 11, 17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization
Martina Guttenbach
,
Renate Schakowski
,
Michael Schmid
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.57 MB
Your tags:
english, 1994
3
Human high-affinity FcγRI (CD64) gene mapped to chromosome 1q21.2-q21.3 by fluorescence in situ hybridization
S. Takai
,
M. Kasama
,
K. Yamada
,
N. Kai
,
N. Hirayama
,
H. Namiki
,
T. Taniyama
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 702 KB
Your tags:
english, 1994
4
Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing
Vesa Juvonen
,
Kirsi Huoponen
,
Ann-Christine Syvänen
,
Eeva Nikoskelainen
,
Marja-Liisa Savontaus
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 512 KB
Your tags:
english, 1994
5
A human gene that restores the DNA-repair defect in SCID mice is located on 8p11.1→q11.1
Akihiro Kurimasa
,
Yuiko Nagata
,
Motoyuki Shimizu
,
Mitsuru Emi
,
Yusuke Nakamura
,
Mitsuo Oshimura
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 1994
6
Genetic analysis of the catalytic domain of theGAPgene in human lung cancer cell lines
Tetsuya Mitsudomi
,
Eitan Friedman
,
Pablo V. Gejman
,
Frank McCormick
,
Adi F. Gazdar
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 925 KB
Your tags:
english, 1994
7
Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient
J. Cozzi
,
E. Chevret
,
S. Rousseaux
,
R. Pelletier
,
V. Benitz
,
H. Jalbert
,
B. Sèle
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 385 KB
Your tags:
english, 1994
8
Expression of (cac)n/(gtg)nsimple repetitive sequences in mRNA of human lymphocytes
Cornelia Epplen
,
Jörg T. Epplen
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 803 KB
Your tags:
english, 1994
9
Presence of an expressed β-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction
Armin Volz
,
Elisabeth Weiss
,
John Trowsdale
,
Andreas Ziegler
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 739 KB
Your tags:
english, 1994
10
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis
Xue-Fan Gu
,
Felix Rooij
,
Gardi Voortman
,
Kor Velde
,
Jean-Charles Deybach
,
Yves Nordmann
,
Bernard Grandchamp
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.03 MB
Your tags:
english, 1994
11
Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours
Paul A. Crossey
,
Keith Foster
,
Frances M. Richards
,
Maude E. Phipps
,
Farida Latif
,
Kalman Tory
,
Michael H. Jones
,
Elizabeth Bentley
,
Ram Kumar
,
Michael I. Lerman
,
Bert Zbar
,
Nabeel A. Affara
,
Malcolm
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 616 KB
Your tags:
english, 1994
12
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles
Gunnel Lundin
,
Anna Wedell
,
Stig Thunell
,
Maria Anvret
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 545 KB
Your tags:
english, 1994
13
Isolation and characterization of the human genomic locus coding for the putative metastasis control gene nm23-H1
Steven Dooley
,
Thomas Seib
,
Matthias Engel
,
Birgit Theisinger
,
Heike Janz
,
Klaus Piontek
,
Klaus-Dieter Zang
,
Cornelius Welter
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 411 KB
Your tags:
english, 1994
14
Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations
Thilo Dörk
,
Rainer Fislage
,
Thomas Neumann
,
Brigitte Wulf
,
Burkhard Tümmler
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 1994
15
Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B(H) gene
Masato Maekawa
,
Kayoko Sudo
,
Kiyoko Nagura
,
Steven S.-L. Li
,
Takashi Kanno
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 547 KB
Your tags:
english, 1994
16
The T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene is a rare polymorphism that does not cause a β-thalassemia as previously ascribed
Vladimir Divoky
,
Erol Baysal
,
Reyhan Öner
,
M. Akif Çürük
,
Emmitt L. D. Walker
,
Karel Indrak
,
Titus H. J. Huisman
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 146 KB
Your tags:
english, 1994
17
Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32
Jude Fitzgibbon
,
Binoy Appukuttan
,
Simon Gayther
,
Dagan Wells
,
Joy Delhanty
,
David M. Hunt
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 295 KB
Your tags:
english, 1994
18
Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese
Takahiko Horiuchi
,
Nobuaki Hatta
,
Mitsuru Matsumoto
,
Hisashi Ohtsuka
,
Francis S. Collins
,
Yuzuru Kobayashi
,
Shigeru Fujita
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 439 KB
Your tags:
english, 1994
19
Detection of aMspI restriction fragment length polymorphism for the human sex hormone-binding globulin (SHBG) gene
Marie-Claude Vohl
,
France T. Dionne
,
Olivier Dériaz
,
Monique Chagnon
,
Claude Bouchard
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 133 KB
Your tags:
english, 1994
20
Highly polymorphic repeat marker within the β-amyloid precursor protein gene
Stefania Zappata
,
Michael B. Petersen
,
Ulrich König
,
Jillian Blaschak
,
Arvinda Chakravarti
,
Flora Tassone
,
Angelo Serra
,
Stylianos E. Antonarakis
,
Christina Brahe
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 192 KB
Your tags:
english, 1994
21
Corrections to the human mitochondrial ribosomal RNA sequences
Toni R. Prezant
,
John V. Agapian
,
Nathan Fischel-Ghodsian
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 157 KB
Your tags:
english, 1994
22
Genetic mapping of two loci, DXS454 and DXS458, with respect to the X-linked agammaglobulinemia gene locus
Mohammed Parkar
,
Ruth Lovering
,
Roland J. Levinsky
,
Christine Kinnon
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 160 KB
Your tags:
english, 1994
23
Detection by the polymerase chain reaction of two polymorphisms in exon 14 of the human inter-α-trypsin inhibitor heavy chain H1 gene
L. Thiberville
,
J. Bourguignon
,
C. Beldjord
,
M. Diarra-Mehrpour
,
G. Nouvet
,
J. P. Martin
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 316 KB
Your tags:
english, 1994
24
Editorial help
Journal:
Human Genetics
Year:
1994
File:
PDF, 83 KB
Your tags:
1994
25
Announcements
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 110 KB
Your tags:
english, 1994
1
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