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Volume 74; Issue 2
Main
Human Genetics
Volume 74; Issue 2
Human Genetics
Volume 74; Issue 2
1
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
M. Stefanini
,
P. Lagomarsini
,
C. F. Arlett
,
S. Marinoni
,
C. Borrone
,
F. Crovato
,
G. Trevisan
,
G. Cordone
,
F. Nuzzo
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 676 KB
Your tags:
english, 1986
2
DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family
Véronique David
,
Pascale Paul
,
M. Simon
,
J. -Y. Gall
,
Renée Fauchet
,
Isabelle Gicquel
,
Isabelle Dugast
,
Loïc Mignon
,
Jacqueline Yaouanq
,
D. Cohen
,
M. Bourel
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 797 KB
Your tags:
english, 1986
3
The single copy gene coding for human α1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
C. D. Boyd
,
Karen Weliky
,
SuEllen Toth-Fejel
,
Susan B. Deak
,
Angela M. Christiano
,
J. W. Mackenzie
,
Linda J. Sandell
,
K. Tryggvason
,
Ellen Magenis
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 517 KB
Your tags:
english, 1986
4
A 45,X male with a Yp/18 translocation
Emanuela Maserati
,
F. Waibel
,
B. Weber
,
M. Fraccaro
,
A. Gal
,
F. Pasquali
,
W. Schempp
,
G. Scherer
,
R. Vaccaro
,
J. Weissenbach
,
U. Wolf
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 653 KB
Your tags:
english, 1986
5
Assignment of a human beta-crystallin gene to 17cen-q23
R. S. Sparkes
,
T. Mohandas
,
Camilla Heinzmann
,
M. B. Gorin
,
Susan Zollman
,
J. Horwitz
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 371 KB
Your tags:
english, 1986
6
Isolation of transcribed DNA sequences from chromosome 21 using mouse fetal cDNA
Tohru Yokoi
,
M. Lovett
,
Zai-Yu Cheng
,
C. J. Epstein
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 613 KB
Your tags:
english, 1986
7
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature
M. J. Pettenati
,
J. L. Haines
,
R. R. Higgins
,
R. S. Wappner
,
C. G. Palmer
,
D. D. Weaver
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 1986
8
Regional localisation of X chromosome short arm probes
Karin Paulsen
,
Susan Forrest
,
G. Scherer
,
H. -H. Ropers
,
Kay Davies
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 617 KB
Your tags:
english, 1986
9
Orosomucoid (ORM) typing by isoelectric focusing: evidence for two structural loci ORM1 and ORM2
I. Yuasa
,
K. Umetsu
,
K. Suenaga
,
M. Robinet-Levy
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 198 KB
Your tags:
english, 1986
10
The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation
Shangzhi Huang
,
Corinne Wong
,
Stylianos E. Antonarakis
,
Tsai Ro-lien
,
Wilson H. Y. Lo
,
Haig H. Kazazian
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 271 KB
Your tags:
english, 1986
11
ApoA-I related DNA polymorphism in humans with coronary heart disease
Monika Buraczynska
,
Janusz Hanzlik
,
Marek Grzywa
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 351 KB
Your tags:
english, 1986
12
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 {L1.28}: further linkage data, heterogeneity testing, and risk estimation
J. F. Clayton
,
A. F. Wright
,
Marcelle Jay
,
Carol M. E. McKeown
,
Maureen Dempster
,
B. S. Jay
,
A. C. Bird
,
S. S. Bhattacharya
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 439 KB
Your tags:
english, 1986
13
Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome)
K. D. MacDermot
,
R. M. Winter
,
S. Malcolm
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 203 KB
Your tags:
english, 1986
14
Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells
H. Eiberg
,
J. Mohr
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 225 KB
Your tags:
english, 1986
15
Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical
F. Apeshiotis
,
K. Bender
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 132 KB
Your tags:
english, 1986
16
Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II
Huguette Brocas
,
Erica M. Bühler
,
P. Simon
,
Naseem J. Malik
,
G. Vassart
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 291 KB
Your tags:
english, 1986
17
Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families
C. R. Müller
,
T. Grimm
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 306 KB
Your tags:
english, 1986
18
Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser)
P. E. Becker
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 89 KB
Your tags:
english, 1986
19
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1
Catherine Turleau
,
F. Taillard
,
Mireille Doussau de Bazignan
,
Nicole Delépine
,
J. C. Desbois
,
J. Grouchy
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 319 KB
Your tags:
english, 1986
20
8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I
J. P. Fryns
,
H. Berghe
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 162 KB
Your tags:
english, 1986
21
Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of (α1-antitrypsin)
Y. Yamamoto
,
R. Sawa
,
N. Okamoto
,
A. Matsui
,
M. Yanagisawa
,
S. Ikemoto
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 319 KB
Your tags:
english, 1986
22
De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy
J. Chelly
,
F. Marlhens
,
B. Marec
,
M. Jeanpierre
,
M. Lambert
,
G. Hamard
,
B. Dutrillaux
,
J. -C. Kaplan
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 382 KB
Your tags:
english, 1986
23
Paracentric inversions in human chromosome 7
M. Schmid
,
T. Haaf
,
M. Zorn
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 310 KB
Your tags:
english, 1986
24
Autosomal dominant macroglossia in two unrelated families
M. C. Reynoso
,
A. Hernández
,
F. Soto
,
O. García-Cruz
,
R. Martínez y Martínez
,
J. M. Cantú
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 238 KB
Your tags:
english, 1986
25
Yqs Resulting from a reciprocal Y;15 translocation in the father of a 46,X,i(Xq) girl
A. M. Joseph
,
M. Jagannath
,
I. M. Thomas
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 66 KB
Your tags:
english, 1986
26
Polymorphism of 6-PGD in South Korea: a new genetic variant 6-PGD Korea
Heide-G. Benkmann
,
Y. K. Paik
,
L. Z. Chen
,
H. W. Goedde
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 136 KB
Your tags:
english, 1986
27
Di George syndrome and 22q11 rearrangements
S. Augusseau
,
S. Jouk
,
P. Jalbert
,
M. Prieur
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 84 KB
Your tags:
english, 1986
28
Rare, polymorphic, and common fragile sites: a classification
F. Hecht
Journal:
Human Genetics
Year:
1986
Language:
english
File:
PDF, 231 KB
Your tags:
english, 1986
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