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Volume 30; Issue 12
Main
Human Mutation
Volume 30; Issue 12
Human Mutation
Volume 30; Issue 12
1
Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders
Ian M. Carr
,
Katarzyna Szymanska
,
Eamonn Sheridan
,
Alexander F. Markham
,
David T. Bonthron
,
Colin A. Johnson
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2009
2
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency
Anne Parle-McDermott
,
Faith Pangilinan
,
Kirsty K. O'Brien
,
James L. Mills
,
Alan M. Magee
,
James Troendle
,
Marie Sutton
,
John M. Scott
,
Peadar N. Kirke
,
Anne M. Molloy
,
Lawrence C. Brody
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 291 KB
Your tags:
english, 2009
3
Structural aspects of therapeutic enzymes to treat metabolic disorders
Tse Siang Kang
,
Raymond C. Stevens
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 717 KB
Your tags:
english, 2009
4
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
Kevin M. Flanigan
,
Diane M. Dunn
,
Andrew von Niederhausern
,
Payam Soltanzadeh
,
Eduard Gappmaier
,
Michael T. Howard
,
Jacinda B. Sampson
,
Jerry R. Mendell
,
Cheryl Wall
,
Wendy M. King
,
Alan Pestronk
,
Jul
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 316 KB
Your tags:
english, 2009
5
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
Maria Valencia
,
Pablo Lapunzina
,
Derek Lim
,
Raffaella Zannolli
,
Deborah Bartholdi
,
Bernd Wollnik
,
Othman Al-Ajlouni
,
Suhair S. Eid
,
Helen Cox
,
Sabrina Buoni
,
Joseph Hayek
,
Maria L. Martinez-Frias
,
Per
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 375 KB
Your tags:
english, 2009
6
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)
B. Pérez
,
A. Rincón
,
A. Jorge-Finnigan
,
E. Richard
,
B. Merinero
,
M. Ugarte
,
L.R. Desviat
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 287 KB
Your tags:
english, 2009
7
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
Thierry Vilboux
,
Michael Kayser
,
Wendy Introne
,
Pim Suwannarat
,
Isa Bernardini
,
Roxanne Fischer
,
Kevin O'Brien
,
Robert Kleta
,
Marjan Huizing
,
William A. Gahl
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 234 KB
Your tags:
english, 2009
8
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase
John J. Flanagan
,
Barbara Rossi
,
Katherine Tang
,
Xiaoyang Wu
,
Kirsten Mascioli
,
Francesca Donaudy
,
Maria Rosaria Tuzzi
,
Federica Fontana
,
Maria Vittoria Cubellis
,
Caterina Porto
,
Elfrida Benjamin
,
Dav
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 490 KB
Your tags:
english, 2009
9
Deep sequencing to reveal new variants in pooled DNA samples
Astrid A. Out
,
Ivonne J.H.M. van Minderhout
,
Jelle J. Goeman
,
Yavuz Ariyurek
,
Stephan Ossowski
,
Korbinian Schneeberger
,
Detlef Weigel
,
Michiel van Galen
,
Peter E.M. Taschner
,
Carli M.J. Tops
,
Martijn
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 366 KB
Your tags:
english, 2009
10
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)
Ivy Jennes
,
Elena Pedrini
,
Monia Zuntini
,
Marina Mordenti
,
Sahila Balkassmi
,
Carla G. Asteggiano
,
Brett Casey
,
Bert Bakker
,
Luca Sangiorgi
,
Wim Wuyts
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 194 KB
Your tags:
english, 2009
11
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
Micha A. Haeuptle
,
Thierry Hennet
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 621 KB
Your tags:
english, 2009
12
Novel missense mutations in the FOXC2 gene alter transcriptional activity
M.A.M. van Steensel
,
R.J. Damstra
,
M. Heitink
,
R.S. Bladergroen
,
J. Veraart
,
Peter M. Steijlen
,
M. van Geel
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 174 KB
Your tags:
english, 2009
13
ssSNPTarget: genome-wide splice-site single nucleotide polymorphism database
Jin Ok Yang
,
Woo-Yeon Kim
,
Jong Bhak
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 780 KB
Your tags:
english, 2009
14
Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathways
Karin Leunen
,
Olivier Gevaert
,
Anneleen Daemen
,
Vanessa Vanspauwen
,
Geneviève Michils
,
Bart De Moor
,
Philippe Moerman
,
Ignace Vergote
,
Eric Legius
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 443 KB
Your tags:
english, 2009
15
Identifying sequence variants in the human mitochondrial genome using high resolution melt (HRM) profiling
Steven F. Dobrowolski
,
Alexandra T.M. Hendrickx
,
Bianca J.C. van den Bosch
,
Hubert J.M. Smeets
,
Jesse Gray
,
Trent Miller
,
Mitch Sears
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2009
16
Linkage exclusion mapping: rare diseases get SAMPLE'd
Shawn K. Westaway
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2009
17
Toward understanding the molecular basis of ovarian cancer
Logan C. Walker
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2009
18
BAK1 gene variation and abdominal aortic aneurysms
Bruce Gottlieb
,
Lorraine E. Chalifour
,
Benjamin Mitmaker
,
Nathan Sheiner
,
Daniel Obrand
,
Cherrie Abraham
,
Melissa Meilleur
,
Tomoko Sugahara
,
Ghassan Bkaily
,
Morris Schweitzer
Journal:
Human Mutation
Year:
2009
Language:
english
File:
PDF, 77 KB
Your tags:
english, 2009
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