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Volume 118; Issue 6
Main
Human Genetics
Volume 118; Issue 6
Human Genetics
Volume 118; Issue 6
1
HumanF7sequence is split into three deep clades that are related to FVII plasma levels
Maria Sabater-Lleal
,
José Manuel Soria
,
Jaume Bertranpetit
,
Laura Almasy
,
John Blangero
,
Jordi Fontcuberta
,
Francesc Calafell
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 455 KB
Your tags:
english, 2006
2
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
Pia Pinholt Madsen
,
Maria Kibæk
,
Xavier Roca
,
Ravi Sachidanandam
,
Adrian R. Krainer
,
Ernst Christensen
,
Robert D. Steiner
,
K. Michael Gibson
,
Thomas J. Corydon
,
Inga Knudsen
,
Ronald J.A. Wanders
,
Jos
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 345 KB
Your tags:
english, 2006
3
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12
Rosetta Lecce
,
Marina Murdolo
,
Gianfranco Gelli
,
Katharina Steindl
,
Livia Coppola
,
Anna Romano
,
Elisa Cupelli
,
Giovanni Neri
,
Marcella Zollino
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 309 KB
Your tags:
english, 2006
4
Kieran C. Murphy, Peter J. Scambler (eds): Velo-cardio-facial syndrome: a model for understanding microdeletion disorders (2005)
Ian D. Young
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 128 KB
Your tags:
english, 2006
5
Variants of theSFTPA1andSFTPA2genes and susceptibility to tuberculosis in Ethiopia
S. Malik
,
C.M.T. Greenwood
,
T. Eguale
,
A. Kifle
,
J. Beyene
,
A. Habte
,
A. Tadesse
,
H. Gebrexabher
,
S. Britton
,
E. Schurr
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 289 KB
Your tags:
english, 2006
6
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
Gloria Ribas
,
Anna González-Neira
,
Antonio Salas
,
Roger L. Milne
,
Ana Vega
,
Begoña Carracedo
,
Emilio González
,
Eva Barroso
,
Lara P. Fernández
,
Patricio Yankilevich
,
Mercedes Robledo
,
Ángel Carracedo
,
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 646 KB
Your tags:
english, 2006
7
First steps in antenatal diagnosis, 1956
Povl Riis
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2006
8
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of theOPA1gene
Simone Schimpf
,
Simone Schaich
,
Bernd Wissinger
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 352 KB
Your tags:
english, 2006
9
Variants inDeleted in AZoospermia-Like(DAZL) are correlated with reproductive parameters in men and women
Joyce Y. Tung
,
Mitchell P. Rosen
,
Lawrence M. Nelson
,
Paul J. Turek
,
John S. Witte
,
Daniel W. Cramer
,
Marcelle I. Cedars
,
Renee A. Reijo Pera
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 456 KB
Your tags:
english, 2006
10
Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect
Bao-Li Chang
,
Ethan M. Lange
,
Latchezar Dimitrov
,
Christopher J. Valis
,
Elizabeth M. Gillanders
,
Leslie A. Lange
,
Kathleen E. Wiley
,
Sarah D. Isaacs
,
Fredrik Wiklund
,
Agnes Baffoe-Bonnie
,
Carl D Lange
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 371 KB
Your tags:
english, 2006
11
Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q
Alejandro A. Schäffer
,
Jessica Pfannstiel
,
A. David B. Webster
,
Alessandro Plebani
,
Lennart Hammarström
,
Bodo Grimbacher
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 193 KB
Your tags:
english, 2006
12
SNP array-based homozygosity mapping revealsMCPH1deletion in family with autosomal recessive mental retardation and mild microcephaly
Masoud Garshasbi
,
Mohammad Mahdi Motazacker
,
Kimia Kahrizi
,
Farkhondeh Behjati
,
Seyedeh Sedigheh Abedini
,
Sahar Esmaeeli Nieh
,
Saghar Ghasemi Firouzabadi
,
Christian Becker
,
Franz Rüschendorf
,
Peter Nü
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 380 KB
Your tags:
english, 2006
13
Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci
Shi-Lin Li
,
Toshimichi Yamamoto
,
Takashi Yoshimoto
,
Rieko Uchihi
,
Masaki Mizutani
,
Yukihide Kurimoto
,
Katsushi Tokunaga
,
Feng Jin
,
Yoshinao Katsumata
,
Naruya Saitou
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 525 KB
Your tags:
english, 2006
14
Novel human pathological mutations
Paul D. Lewis
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 179 KB
Your tags:
english, 2006
15
Extreme skewing of X chromosome inactivation in mothers of homosexual men
Sven Bocklandt
,
Steve Horvath
,
Eric Vilain
,
Dean H. Hamer
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 225 KB
Your tags:
english, 2006
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