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 24; Issue 1
Main
Human Mutation
Volume 24; Issue 1
Human Mutation
Volume 24; Issue 1
1
Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia
Sally Plummer
,
Clare Tower
,
Pedro Alonso
,
Linda Morgan
,
Phil Baker
,
Fiona Broughton-Pipkin
,
Noor Kalsheker
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 142 KB
Your tags:
english, 2004
2
The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy
Maria Adelaide Caligo
,
Simona Agata
,
Gitana Aceto
,
Rosella Crucianelli
,
Siranoush Manoukian
,
Bernard Peissel
,
Maria Chiara Scaini
,
Elisa Sensi
,
Serena Veschi
,
Alessandro Cama
,
Paolo Radice
,
Alessandra
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2004
3
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
Stefan J. White
,
Geraldine R. Vink
,
Marjolein Kriek
,
Wim Wuyts
,
Jan Schouten
,
Bert Bakker
,
Martijn H. Breuning
,
Johan T. den Dunnen
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 202 KB
Your tags:
english, 2004
4
Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma
Yun Wang
,
Pedro Kringen
,
Gunnar B. Kristensen
,
Ruth Holm
,
Mark M.O. Baekelandt
,
Magali Olivier
,
Hanne Skomedal
,
Pierre Hainaut
,
Claes G. Tropé
,
Vera M. Abeler
,
Jahn M. Nesland
,
Anne-Lise Børresen-Dale
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 522 KB
Your tags:
english, 2004
5
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations
Christèle Dubourg
,
Leïla Lazaro
,
Laurent Pasquier
,
Claude Bendavid
,
Martine Blayau
,
Franck Le Duff
,
Marie-Renée Durou
,
Sylvie Odent
,
Véronique David
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 225 KB
Your tags:
english, 2004
6
RT-PCR permits simultaneous genotyping of thiopurine S-methyltransferase allelic variants by multiplex induced heteroduplex analysis
Nigel Wood
,
Adrian Fraser
,
Jeffrey Bidwell
,
Graham Standen
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 213 KB
Your tags:
english, 2004
7
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
M. Fanin
,
L. Fulizio
,
A.C. Nascimbeni
,
M. Spinazzi
,
G. Piluso
,
V.M. Ventriglia
,
G. Ruzza
,
G. Siciliano
,
C.P. Trevisan
,
L. Politano
,
V. Nigro
,
C. Angelini
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2004
8
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray
Rosemary Ekong
,
Steve Jeremiah
,
David Judah
,
Ordan Lehmann
,
Farideh Mirzayans
,
Ying-Chun Hung
,
Michael A. Walter
,
Shomi Bhattacharya
,
Timothy W. Gant
,
Sue Povey
,
Jonathan Wolfe
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 261 KB
Your tags:
english, 2004
9
Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse
Nicolas Gilbert
,
Jamee M. Bomar
,
Margit Burmeister
,
John V. Moran
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 257 KB
Your tags:
english, 2004
10
Functional analysis of polymorphisms in the promoter regions of genes on 22q11
Bastiaan Hoogendoorn
,
Sharon L. Coleman
,
Carol A. Guy
,
S. Kaye Smith
,
Michael C. O'Donovan
,
Paul R. Buckland
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 156 KB
Your tags:
english, 2004
11
DFold: PCR design that minimizes secondary structure and optimizes downstream genotyping applications
David Fredman
,
M. Jobs
,
L. Strömqvist
,
A.J. Brookes
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 145 KB
Your tags:
english, 2004
12
Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors
Reyna Favis
,
Jianmin Huang
,
Norman P. Gerry
,
Alfred Culliford
,
Philip Paty
,
Thierry Soussi
,
Francis Barany
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 582 KB
Your tags:
english, 2004
13
The androgen receptor gene mutations database (ARDB): 2004 update
Bruce Gottlieb
,
Lenore K. Beitel
,
Jian Hui Wu
,
Mark Trifiro
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 51 KB
Your tags:
english, 2004
14
Novel MC1R variants in Ligurian melanoma patients and controls
Lorenza Pastorino
,
Roberto Cusano
,
William Bruno
,
Francesca Lantieri
,
Paola Origone
,
Monica Barile
,
Sara Gliori
,
Graeme A. Shepherd
,
Richard A. Sturm
,
Giovanna Bianchi Scarra
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 1.87 MB
Your tags:
english, 2004
15
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families
Jörg Fiedler
,
Martine Le Merrer
,
Geert Mortier
,
Solange Heuertz
,
Laurence Faivre
,
Rolf E. Brenner
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 2.13 MB
Your tags:
english, 2004
16
TBX5 mutations in Non-Holt-Oram Syndrome (HOS) malformed hearts
Stella Marie Reamon-Buettner
,
Juergen Borlak
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 39 KB
Your tags:
english, 2004
17
A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes
Frédéric Leprêtre
,
Francis Vasseur
,
Martine Vaxillaire
,
Philipp E. Scherer
,
Saira Ali
,
Kenneth Linton
,
Timothy Aitman
,
Philippe Froguel
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 2.74 MB
Your tags:
english, 2004
18
Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate
F. Pezzetti
,
M. Martinelli
,
L. Scapoli
,
F. Carinci
,
A. Palmieri
,
J. Marchesini
,
P. Carinci
,
E. Caramelli
,
R. Rullo
,
F. Gombos
,
M. Tognon
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 37 KB
Your tags:
english, 2004
19
Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1
V. Ricci
,
M. Stroppiano
,
F. Corsolini
,
M. Di Rocco
,
G. Parenti
,
S. Regis
,
S. Grossi
,
R. Biancheri
,
R. Mazzotti
,
M. Filocamo
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 35 KB
Your tags:
english, 2004
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
×
×