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Volume 94; Issue 5
Main
Human Genetics
Volume 94; Issue 5
Human Genetics
Volume 94; Issue 5
1
Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia
Peter. S. N. Rowe
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 1994
2
Multiple endocrine neoplasia type 1 (MEN1) in two Asian families
B. T. Teh
,
S. I. Hii
,
R. David
,
V. Parameswaran
,
S. Grimmond
,
M. K. Walters
,
T. T. Tan
,
D. J. Nancarrow
,
S. P. Chan
,
J. Mennon
,
C. Larsson
,
A. Zaini
,
B. A. K. Khalid
,
J. J. Shepherd
,
D. P. Cameron
,
N.
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 453 KB
Your tags:
english, 1994
3
Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A
Mauro S. Figueiredo
,
Marti H. Tavella
,
Belinda P. Simões
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 575 KB
Your tags:
english, 1994
4
The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes
Rutva Haataja
,
Marja-Leena Väisänen
,
Muyao Li
,
Markku Ryynänen
,
Jaakko Leisti
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 379 KB
Your tags:
english, 1994
5
Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees
F. L. Munier
,
A. L. Murphree
,
L. Arabian
,
P. Flodman
,
M. A. Spence
,
G. Pescia
,
H. P. Rutz
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 783 KB
Your tags:
english, 1994
6
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma
Valerie Greger
,
Nils Debus
,
Dietmar Lohmann
,
Wolfgang Höpping
,
Eberhard Passarge
,
Bernhard Horsthemke
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 674 KB
Your tags:
english, 1994
7
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen
Nicola J. Rose
,
Katrina Mackay
,
Anne Paepe
,
Beat Steinmann
,
Hope H. Punnett
,
Raymond Dalgleish
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 726 KB
Your tags:
english, 1994
8
Fluorescence in situ hybridization reveals a break in the α-satellite DNA of chromosome 1 in a family with a balanced whole-arm translocation
C. H. Gravholt
,
M. Caprani
,
U. Friedrich
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.72 MB
Your tags:
english, 1994
9
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis
David S. Millar
,
Adam I. Wacey
,
Jennifer Ribando
,
Efthimia Melissari
,
Benedicte Laursen
,
Paul Woods
,
Vijay V. Kakkar
,
David N. Cooper
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.55 MB
Your tags:
english, 1994
10
At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria
Khedoudja Nafa
,
Abderrezak Reghis
,
Naima Osmani
,
Lamia Baghli
,
Hassen Aït-Abbes
,
Mohamed Benabadji
,
Jean-Claude Kaplan
,
Tom Vulliamy
,
Lucio Luzzatto
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 467 KB
Your tags:
english, 1994
11
Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis
Gesina Lijnschoten
,
Jozefa Albrechts
,
Monique Vallinga
,
Anton H. N. Hopman
,
Jan W. Arends
,
Joseph P. M. Geraedts
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 461 KB
Your tags:
english, 1994
12
Apparent regression of the CGG repeat in FMR1 to an allele of normal size
Lieve Vits
,
Kristel Boulle
,
Edwin Reyniers
,
Ingrid Handig
,
John K. Darby
,
Ben Oostra
,
Patrick J. Willems
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 410 KB
Your tags:
english, 1994
13
Mammalian adenylyl cyclase family members are randomly located on different chromosomes
Christophe Gaudin
,
Charles J. Homey
,
Yoshihiro Ishikawa
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 412 KB
Your tags:
english, 1994
14
Filipino β-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis
John S. Waye
,
Barry Eng
,
John A. Hunt
,
David H. K. Chui
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 334 KB
Your tags:
english, 1994
15
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients
Thilo Dörk
,
Frauke Mekus
,
Karen Schmidt
,
Jutta Boßhammer
,
Rainer Fislage
,
Thomas Heuer
,
Violetta Dziadek
,
Thomas Neumann
,
Nanette Kälin
,
Ulrich Wulbrand
,
Brigitte Wulf
,
Horst Hardt
,
Günther Maaß
,
Burk
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.63 MB
Your tags:
english, 1994
16
Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis
Yvonne L. Wallis
,
Fiona Macdonald
,
Maj Hultén
,
Jenny E. V. Morton
,
Carol M. McKeown
,
John P. Neoptolemos
,
Mike Keighley
,
Dion G. Morton
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 668 KB
Your tags:
english, 1994
17
Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization
Setsuo Takai
,
Masamitsu Tanaka
,
Haruhiko Sugimura
,
Kiyomi Yamada
,
Yasuhisa Naito
,
Isamu Kino
,
Michiyuki Matsuda
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 616 KB
Your tags:
english, 1994
18
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)
Emmanuelle Plassart
,
Alexis Elbaz
,
Jose Vale Santos
,
Jocelyne Reboul
,
Pascale Lapie
,
Dominique Chauveau
,
Karin Jurkat-Rott
,
Joao Guimaraes
,
Jean-Marie Saudubray
,
Jean Weissenbach
,
Frank Lehmann-Horn
,
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 538 KB
Your tags:
english, 1994
19
Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12
Valère Cacheux
,
Pavel Martasek
,
Françoise Fougerousse
,
Marie Hélène Delfau
,
Luc Druart
,
Gerard Tachdjian
,
Bernard Grandchamp
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 508 KB
Your tags:
english, 1994
20
A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia
Stefonia Filosa
,
Wangwie Cai
,
Renzo Galanello
,
Antonio Cao
,
Domenico Mattia
,
Frnacesco Schettini
,
Giuseppe Martini
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 374 KB
Your tags:
english, 1994
21
Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease
J. Benitez
,
E. Fernandez
,
P. Garcia Ruiz
,
M. Robledo
,
C. Ramos
,
J. Yebenes
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 182 KB
Your tags:
english, 1994
22
Genetic and physical mapping of the GLUR5 glutamate receptor gene on human chromosome 21
Paul Gregor
,
Sandra M. Gaston
,
Xiaodong Yang
,
Jeremiah P. O'Regan
,
Daniel R. Rosen
,
Rudolph E. Tanzi
,
David Patterson
,
Jonathan L. Haines
,
H. Robert Horvitz
,
George R. Uhl
,
Robert H. Brown
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 677 KB
Your tags:
english, 1994
23
Gene frequencies of alcohol dehydrogenase2(ADH2) and aldehyde dehydrogenase2(ALDH2) in five Chinese minorities
Shi-Han Chen
,
Min Zhang
,
Ning-Siu Wang
,
C. Ronald Scott
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1994
24
Preliminary mutation analysis in the phenylanaline hydroxylase gene in Greek PKU and HPA patients
J. Traeger-Synodinos
,
E. Kanavakis
,
M. Kalogerakou
,
K. Soulpi
,
S. Missiou-Tsangaraki
,
C. Kattamis
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 265 KB
Your tags:
english, 1994
25
The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families
Elon Pras
,
Ivona Aksentijevich
,
Ernesto Levy
,
Luis Gruberg
,
Leandrea Prosen
,
Michael Dean
,
Mordechai Pras
,
Daniel L. Kastner
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 148 KB
Your tags:
english, 1994
26
A new complex polymorphic repeat close to the HLA-A and HLA-E loci
Angela Totaro
,
Anna Grifa
,
Antonella Roetto
,
Leopoldo Zelante
,
Clara Camaschella
,
Paolo Gasparini
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 98 KB
Your tags:
english, 1994
27
A novel polymorphism in the coding sequence of the human RET proto-oncogene
Patrick Edery
,
Tania Attié
,
Lois M. Mulligan
,
Anna Pelet
,
Charis Eng
,
Brace A. J. Ponder
,
Arnold Munnich
,
Stanislas Lyonnet
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 111 KB
Your tags:
english, 1994
28
A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent
Dahmani M. Fathallah
,
Mohamed Bejaoui
,
William S. Sly
,
Rachid Lakhoua
,
Koussay Dellagi
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 217 KB
Your tags:
english, 1994
29
An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13
Bärbel Dittrich
,
Karin Bulling
,
Stephanie Groß
,
Bernhard Horsthemke
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 157 KB
Your tags:
english, 1994
30
A pentanucleotide tandem duplication polymorphism in the 3′ untranslated region of the HLA-linked heat-shock protein 70-2 (HSP70-2) gene
Ralf Dressel
,
Eberhard Günther
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 142 KB
Your tags:
english, 1994
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