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Volume 86; Issue 5
Main
Human Genetics
Volume 86; Issue 5
Human Genetics
Volume 86; Issue 5
1
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
Michael Krawczak
,
David N. Cooper
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 1.84 MB
Your tags:
english, 1991
2
A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis
Mitsuru Shinohara
,
Shigeru Minowada
,
Yoshio Aso
,
Kiyomi Yamada
,
Yutaka Nakahori
,
Takashi Tamura
,
Yasuo Nakagome
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 614 KB
Your tags:
english, 1991
3
Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas
Kimiko Yamakawa
,
Hisako Yanagi
,
Keijiro Saku
,
Jun Sasaki
,
Takaaki Okafuji
,
Yae Shimakura
,
Koichi Kawai
,
Shigeru Tsuchiya
,
Kohki Takada
,
Setsuya Naito
,
Kikuo Arakawa
,
Hideo Hamaguchi
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 583 KB
Your tags:
english, 1991
4
Polymorphism of the T-cell receptor gamma variable and constant region genes in a Chinese population
N. Ghanem
,
Z. Soua
,
X. G. Zhang
,
M. Zijun
,
Y. Zhiwei
,
G. Lefranc
,
M.-P. Lefranc
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 949 KB
Your tags:
english, 1991
5
Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms
Jane Bailly
,
Alex E. MacKenzie
,
Suzanne Leblond
,
Robert G. Korneluk
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 704 KB
Your tags:
english, 1991
6
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency
Joachim Kappler
,
Peter Leinekugel
,
Ernst Conzelmann
,
Wim J. Kleijer
,
Alfried Kohlschütter
,
Tønne Tønnesen
,
Michael Rochel
,
F. Freycon
,
Peter Propping
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 891 KB
Your tags:
english, 1991
7
Changes of common fragile sites on chromosomes according to the menstrual cycle
Takashi Furuya
,
Jun Hagiwara
,
Hisako Ochi
,
Hideo Tokuhiro
,
Ryuichi Kikawada
,
Toshiaki Karube
,
Shaw Watanabe
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 420 KB
Your tags:
english, 1991
8
High recurrence of rearrangements involving chromosome 14 in an ataxia telangiectasia lymphoblastoid cell line and in its mutagen-treated derivatives
Danielle Lefrançois
,
Nadja Kokalj
,
Evani Viegas-Péquignot
,
Luc Montagnier
,
Bernard Dutrillaux
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 528 KB
Your tags:
english, 1991
9
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the “critical segment” towards the telomere
Maria Anvret
,
Magnus Nordenskjöld
,
Lisa Stolpe
,
Lena Johansson
,
Karen Bröndum-Nielsen
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 241 KB
Your tags:
english, 1991
10
Chromosomal in situ suppression hybridization after Giemsa banding
Martin Klever
,
Caspar Grond-Ginsbach
,
Harry Scherthan
,
Traute M. Schroeder-Kurth
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 314 KB
Your tags:
english, 1991
11
Non-radioactive in situ hybridization pattern of the M13 minisatellite sequences on human metaphase chromosomes
A. Christmann
,
P. J. L. Lagoda
,
K. D. Zang
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 760 KB
Your tags:
english, 1991
12
Karyotype pecularities of human colorectal adenocarcinomas
L. N. Konstantinova
,
E. W. Fleischman
,
V. I. Knisch
,
A. G. Perevozchikov
,
B. P. Kopnin
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 792 KB
Your tags:
english, 1991
13
Molecular analysis of chromosome region 11p13 in patients with Drash syndrome
L. Jadresic
,
R. B. Wadey
,
B. Buckle
,
T. M. Barratt
,
C. D. Mitchell
,
J. K. Cowell
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 603 KB
Your tags:
english, 1991
14
Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4)
Rajendra Kumar-Singh
,
Daniel G. Bradley
,
G. Jane Farrar
,
Mark Lawler
,
Siobhan A. Jordan
,
Peter Humphries
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 366 KB
Your tags:
english, 1991
15
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
Peter J. Wilson
,
Graeme K. Suthers
,
David F. Callen
,
Elizabeth Baker
,
Paul V. Nelson
,
Alan Cooper
,
J. Ed Wraith
,
Grant R. Sutherland
,
C. Phillip Morris
,
John J. Hopwood
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 499 KB
Your tags:
english, 1991
16
The human aldose reductase gene maps to chromosome region 7q35
Alexander Graham
,
Paul Heath
,
John E. N. Morten
,
Alexander F. Markham
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 654 KB
Your tags:
english, 1991
17
The human placental protein 14 (PP14) gene is localized on chromosome 9q34
Nguyen Cong
,
Christian Vaisse
,
Marie-Sylvie Gross
,
Rima Slim
,
Edwin Milgrom
,
Alain Bernheim
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 606 KB
Your tags:
english, 1991
18
Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies
Malgorzata Schmidt
,
Desirée Sart
,
Paul Kalitsis
,
Margaret Leversha
,
Sue Dale
,
Leslie Sheffield
,
Daniela Toniolo
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 487 KB
Your tags:
english, 1991
19
DNA polymorphisms associated with a new α1-antitrypsin PI Q0 variant (PI Q0riedenburg)
W. Poller
,
J.-P. Faber
,
S. Weidinger
,
K. Olek
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 488 KB
Your tags:
english, 1991
20
Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9
Elena Raimondi
,
Pia Bernasconi
,
Daniela Moralli
,
Riccardo Fujita
,
Graziella Uziel
,
Stefano Donato
,
Luigi Carli
,
Massimo Pandolfo
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 357 KB
Your tags:
english, 1991
21
The gene for MEN 2A is tightly linked to the centromere of chromosome 10
Steven A. Narod
,
Hagay Sobol
,
Isabelle Schuffenecker
,
Marie-France Lavoué
,
Gilbert M. Lenoir
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 209 KB
Your tags:
english, 1991
22
Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele
J. Zlotogora
,
T. Schaap
,
M. Zeigler
,
G. Bach
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 250 KB
Your tags:
english, 1991
23
A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome
A. Smith
,
R. Lindeman
,
F. Volpato
,
A. Kearney
,
S. White
,
E. Haan
,
R. J. Trent
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 274 KB
Your tags:
english, 1991
24
Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene
Alexandra I. F. Blakemore
,
Steen Kolvraa
,
Niels Gregersen
,
Paul C. Engel
,
Diana Curtis
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 107 KB
Your tags:
english, 1991
25
High incidence of acute infantile spinal atrophy in Hungary
Andrew Czeizel
Journal:
Human Genetics
Year:
1991
Language:
english
File:
PDF, 37 KB
Your tags:
english, 1991
26
Erratum
Michal Witt
,
Robert P. Erickson
Journal:
Human Genetics
Year:
1991
File:
PDF, 27 KB
Your tags:
1991
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