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 118; Issue 3-4
Main
Human Genetics
Volume 118; Issue 3-4
Human Genetics
Volume 118; Issue 3-4
1
Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine
Nan Yang
,
Hongzhe Li
,
Lindsey A. Criswell
,
Peter K. Gregersen
,
Marta E. Alarcon-Riquelme
,
Rick Kittles
,
Russell Shigeta
,
Gabriel Silva
,
Pragna I. Patel
,
John W. Belmont
,
Michael F. Seldin
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 686 KB
Your tags:
english, 2005
2
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene
Yoko Kawai
,
Akihiko Moriyama
,
Kiyofumi Asai
,
Carrie M. Coleman-Campbell
,
Satoshi Sumi
,
Hideko Morishita
,
Mariko Suchi
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 154 KB
Your tags:
english, 2005
3
Human gene mutations
Dagmar Orth
Journal:
Human Genetics
Year:
2005
File:
PDF, 90 KB
Your tags:
2005
4
Generation or birth cohort effect on cancer risk in Li–Fraumeni syndrome
Barry W. Brown
,
Tracy J. Costello
,
Shih-Jen Hwang
,
Louise C. Strong
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 248 KB
Your tags:
english, 2005
5
A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population
Agnes L. Nishimura
,
Ammar Al-Chalabi
,
Mayana Zatz
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2005
6
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1
Helmut Grasberger
,
Martine Vaxillaire
,
Silvana Pannain
,
John C. Beck
,
Aviva Mimouni-Bloch
,
Vincent Vatin
,
Gilbert Vassart
,
Philippe Froguel
,
Samuel Refetoff
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2005
7
Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association
E. K. Tan
,
K. Y. Puong
,
D. K. Y. Chan
,
K. Yew
,
S. Fook-Chong
,
H. Shen
,
P. W. Ng
,
J. Woo
,
Y. Yuen
,
R. Pavanni
,
M. C. Wong
,
K. Puvan
,
Y. Zhao
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2005
8
Geography is a better determinant of human genetic differentiation than ethnicity
Andrea Manica
,
Franck Prugnolle
,
François Balloux
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 372 KB
Your tags:
english, 2005
9
Novel human pathological mutations
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 141 KB
Your tags:
english, 2005
10
Novel human pathological mutations
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2005
11
Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR
Cynthia Helms
,
Nancy L. Saccone
,
Li Cao
,
Jil A. Wright. Daw
,
Kai Cao
,
Tony M. Hsu
,
Patricia Taillon-Miller
,
Shenghui Duan
,
Derek Gordon
,
Brandon Pierce
,
Jurg Ott
,
John Rice
,
Marcelo A. Fernandez-Vina
,
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 418 KB
Your tags:
english, 2005
12
Linkage methods in human genetics before the computer
A. W. F. Edwards
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 748 KB
Your tags:
english, 2005
13
Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference
Shurong Huang
,
Lishan Chen
,
Nataliya Libina
,
Joel Janes
,
George M. Martin
,
Judith Campisi
,
Junko Oshima
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 295 KB
Your tags:
english, 2005
14
An analysis of genetic variation across theMBL2locus in Dutch Caucasians indicates that 3′ haplotypes could modify circulating levels of mannose-binding lectin
Toralf Bernig
,
Willemijn Breunis
,
Nannette Brouwer
,
Amy Hutchinson
,
Robert Welch
,
Dirk Roos
,
Taco Kuijpers
,
Stephen Chanock
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 564 KB
Your tags:
english, 2005
15
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4
Qingjiong Zhang
,
Fareeha Zulfiqar
,
Xueshan Xiao
,
S. Amer Riazuddin
,
Radha Ayyagari
,
Farooq Sabar
,
Raphael Caruso
,
Paul A. Sieving
,
Sheikh Riazuddin
,
J. Fielding Hejtmancik
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2005
16
Acyl-CoA: cholesterol acyltransferase-2 gene polymorphisms and their association with plasma lipids and coronary artery disease risks
Xuelian He
,
Yongjian Lu
,
Nilmani Saha
,
Hongyuan Yang
,
Chew-Kiat Heng
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 253 KB
Your tags:
english, 2005
17
One step closer to fixing association studies: evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls
Haydeh Payami
,
Motao Zhu
,
Jennifer Montimurro
,
Robert Keefe
,
Colin C. McCulloch
,
Lina Moses
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 379 KB
Your tags:
english, 2005
18
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
Michele D. Bishop
,
Steven D. Freedman
,
Julian Zielenski
,
Najma Ahmed
,
Annie Dupuis
,
Sheelagh Martin
,
Lynda Ellis
,
Julie Shea
,
Isobel Hopper
,
Mary Corey
,
Paul Kortan
,
Gregory Haber
,
Christine Ross
,
Joh
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 341 KB
Your tags:
english, 2005
19
Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoter SNP
Sara Lindström
,
Fredrik Wiklund
,
Björn-Anders Jonsson
,
Hans-Olov Adami
,
Katarina Bälter
,
Anthony J. Brookes
,
Jianfeng Xu
,
S. Lilly Zheng
,
William B. Isaacs
,
Jan Adolfsson
,
Henrik Grönberg
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 378 KB
Your tags:
english, 2005
20
Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members
Chao Xing
,
Courtney Gray-McGuire
,
Jennifer A. Kelly
,
Phillip Garriott
,
Hulya Bukulmez
,
John B. Harley
,
Jane M. Olson
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 330 KB
Your tags:
english, 2005
21
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
Myrto Papaioannou
,
Christina F. Chakarova
,
De Quincy C. Prescott
,
Naushin Waseem
,
Thorsten Theis
,
Irma Lopez
,
Bhavdip Gill
,
Robert K. Koenekoop
,
Shomi S. Bhattacharya
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2005
22
A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1
Jost Schönberger
,
Leif Kühler
,
Elisabete Martins
,
Tom H. Lindner
,
Jose Silva-Cardoso
,
Michael Zimmer
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 347 KB
Your tags:
english, 2005
23
Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples
Matthew J. McGinniss
,
Christina Chen
,
Joy B. Redman
,
Arlene Buller
,
Franklin Quan
,
Mei Peng
,
Robert Giusti
,
Feras M. Hantash
,
Donghui Huang
,
Weimin Sun
,
Charles M. Strom
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 202 KB
Your tags:
english, 2005
24
TheEPAS1gene influences the aerobic–anaerobic contribution in elite endurance athletes
Jennifer Henderson
,
Jason M. Withford-Cave
,
David L. Duffy
,
Stuart J. Cole
,
Nicole A. Sawyer
,
Jason P. Gulbin
,
Allan Hahn
,
Ronald J. Trent
,
Bing Yu
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2005
25
Comparison of three methods to estimate genetic ancestry and control for stratification in genetic association studies among admixed populations
Hui-Ju Tsai
,
Shweta Choudhry
,
Mariam Naqvi
,
William Rodriguez-Cintron
,
Esteban González Burchard
,
Elad Ziv
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 476 KB
Your tags:
english, 2005
26
A new mutation in exon 7 ofNEMOgene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
Natalia Martinez-Pomar
,
Ivan Munoz-Saa
,
Damian Heine-Suner
,
Ana Martin
,
Asma Smahi
,
Nuria Matamoros
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 357 KB
Your tags:
english, 2005
27
Allelic imbalance analysis of oral tongue squamous cell carcinoma by high-density single nucleotide polymorphism arrays using whole-genome amplified DNA
Xiaofeng Zhou
,
Stephane Temam
,
Zugen Chen
,
Hui Ye
,
Li Mao
,
David T. W. Wong
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 313 KB
Your tags:
english, 2005
28
Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis
Young Ho Lee
,
Swapan K. Nath
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 421 KB
Your tags:
english, 2005
29
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation
Hiroki Kano
,
Kenji Kurosawa
,
Emiko Horii
,
Shiro Ikegawa
,
Hideki Yoshikawa
,
Hiroki Kurahashi
,
Tatsushi Toda
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 360 KB
Your tags:
english, 2005
30
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
Giles D.J. Watts
,
Sarju G. Mehta
,
Chengfeng Zhao
,
Sheena Ramdeen
,
Sara Jane Hamilton
,
Deborah V. Novack
,
Steven Mumm
,
Michael P. Whyte
,
Barbara Mc Gillivray
,
Virginia E. Kimonis
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 317 KB
Your tags:
english, 2005
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
×
×