books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 102; Issue 5
Main
Human Genetics
Volume 102; Issue 5
Human Genetics
Volume 102; Issue 5
1
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identifiedPAX3mutations
Anita L. DeStefano
,
L. Adrienne Cupples
,
Kathleen S. Arnos
,
J. H. Jr. Asher
,
Clinton T. Baldwin
,
Susan Blanton
,
Melisa L. Carey
,
Elias O. da Silva
,
T. B. Friedman
,
Jacquie Greenberg
,
Anil K. Lalwani
,
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 98 KB
Your tags:
english, 1998
2
A study of females with deletions of the short arm of the X chromosome
Rowena S. James
,
Brian Coppin
,
Paola Dalton
,
Nicholas R. Dennis
,
Caroline Mitchell
,
Andrew J. Sharp
,
David H. Skuse
,
N. Simon Thomas
,
P. A. Jacobs
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 290 KB
Your tags:
english, 1998
3
A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region
W. Thomas
,
A. Fullan
,
Deborah B. Loeb
,
Erin E. McClelland
,
Bruce R. Bacon
,
Roger K. Wolff
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 328 KB
Your tags:
english, 1998
4
Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at theNAT2, GSTM1andCYP2D6loci
M.-L. Muiras
,
Patrick Verasdonck
,
Florence Cottet
,
François Schächter
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 84 KB
Your tags:
english, 1998
5
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
Joseph F. Cubells
,
Daniel P. van Kammen
,
Mary E. Kelley
,
George M. Anderson
,
Daniel T. O’Connor
,
L. H. Price
,
Robert Malison
,
Peter A. Rao
,
Kazuto Kobayashi
,
Toshiharu Nagatsu
,
J. Gelernter
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 109 KB
Your tags:
english, 1998
6
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
S. Mustajoki
,
Hannele Pihlaja
,
Helena Ahola
,
Niels Erik Petersen
,
Pertti Mustajoki
,
Raili Kauppinen
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 179 KB
Your tags:
english, 1998
7
High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families
Tapan Ganguly
,
Rohini Dhulipala
,
L. Godmilow
,
A. Ganguly
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 160 KB
Your tags:
english, 1998
8
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13
K. Schröder
,
Simone Schuffenhauer
,
Heide Seidel
,
Oliver Bartsch
,
Nikolaus Blin
,
Georg Klaus Hinkel
,
Holger Schmitt
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 118 KB
Your tags:
english, 1998
9
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias
B. Górski
,
Jolanta Kubalska
,
Marek Naruszewicz
,
J. Lubiński
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 133 KB
Your tags:
english, 1998
10
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11
Liborio Stuppia
,
Valentina Gatta
,
Giuseppe Calabrese
,
Paolo Guanciali Franchi
,
Elisena Morizio
,
Cristina Bombieri
,
Rita Mingarelli
,
Vincenzo Sforza
,
Giovanni Frajese
,
Raffaele Tenaglia
,
G. Palka
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 145 KB
Your tags:
english, 1998
11
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Katie L. Swango
,
Mübeccel Demirkol
,
Gülden Hüner
,
E. Pronicka
,
Jolanta Sykut-Cegielska
,
Andreas Schulze
,
B. Wolf
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 62 KB
Your tags:
english, 1998
12
Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel
M. Ludwig
,
Ursula Bolkenius
,
Lucia Wickert
,
Peter Marynen
,
Frank Bidlingmaier
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 95 KB
Your tags:
english, 1998
13
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
Frauke Mekus
,
Manfred Ballmann
,
Inez Bronsveld
,
Thilo Dörk
,
Jan Bijman
,
Burkhard Tümmler
,
H. J. Veeze
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 113 KB
Your tags:
english, 1998
14
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country
J. M. Collée
,
Hendrik G. de Vries
,
Hans Scheffer
,
Dicky J. J. Halley
,
Leo P. ten Kate
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 157 KB
Your tags:
english, 1998
15
Gross deletions of the neurofibromatosis type 1(NF1)gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
M. Upadhyaya
,
M. Ruggieri
,
J. Maynard
,
M. Osborn
,
C. Hartog
,
S. Mudd
,
M. Penttinen
,
I. Cordeiro
,
M. Ponder
,
B. A. J. Ponder
,
M. Krawczak
,
D. N. Cooper
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 119 KB
Your tags:
english, 1998
16
The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
I. Smyth
,
Carol Wicking
,
B. Wainwright
,
Georgia Chenevix-Trench
Journal:
Human Genetics
Year:
1998
Language:
english
File:
PDF, 121 KB
Your tags:
english, 1998
17
Erratum: Hum Genet (1998) 102: 459–463
Journal:
Human Genetics
Year:
1998
File:
PDF, 34 KB
Your tags:
1998
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×