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 33; Issue 8
Main
Human Mutation
Volume 33; Issue 8
Human Mutation
Volume 33; Issue 8
1
Mutation update on the CHD7 gene involved in CHARGE syndrome
Nicole Janssen
,
Jorieke E. H. Bergman
,
Morris A. Swertz
,
Lisbeth Tranebjaerg
,
Marianne Lodahl
,
Jeroen Schoots
,
Robert M. W. Hofstra
,
Conny M. A. van Ravenswaaij-Arts
,
Lies H. Hoefsloot
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 348 KB
Your tags:
english, 2012
2
SURF1-associated leigh syndrome: A case series and novel mutations
Inn-Chi Lee
,
Ayman W. El-Hattab
,
Jing Wang
,
Fang-Yuan Li
,
Shao-Wen Weng
,
William J. Craigen
,
Lee-Jun C. Wong
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 369 KB
Your tags:
english, 2012
3
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia
Florin Sasarman
,
Tamiko Nishimura
,
Isabelle Thiffault
,
Eric A. Shoubridge
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 365 KB
Your tags:
english, 2012
4
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
Peter Huppke
,
Cornelia Brendel
,
Georg Christoph Korenke
,
Iris Marquardt
,
Anthony Donsante
,
Ling Yi
,
Julia D. Hicks
,
Peter J. Steinbach
,
Callum Wilson
,
Orly Elpeleg
,
Lisbeth Birk Møller
,
John Christodo
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 475 KB
Your tags:
english, 2012
5
Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cells
Bodour Salhia
,
Courtney Van Cott
,
Tony Tegeler
,
Ashoka Polpitiya
,
Rachelle A. DuQuette
,
Molly Gale
,
Galen Hostteter
,
Konstantinos Petritis
,
John Carpten
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 587 KB
Your tags:
english, 2012
6
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
Claude Houdayer
,
Virginie Caux-Moncoutier
,
Sophie Krieger
,
Michel Barrois
,
Françoise Bonnet
,
Violaine Bourdon
,
Myriam Bronner
,
Monique Buisson
,
Florence Coulet
,
Pascaline Gaildrat
,
Cédrick Lefol
,
Méla
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 333 KB
Your tags:
english, 2012
7
PON-P: Integrated predictor for pathogenicity of missense variants
Ayodeji Olatubosun
,
Jouni Väliaho
,
Jani Härkönen
,
Janita Thusberg
,
Mauno Vihinen
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 318 KB
Your tags:
english, 2012
8
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
Marie-Pierre Audrézet
,
Emilie Cornec-Le Gall
,
Jian-Min Chen
,
Sylvia Redon
,
Isabelle Quéré
,
Joelle Creff
,
Caroline Bénech
,
Sandrine Maestri
,
Yann Le Meur
,
Claude Férec
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 465 KB
Your tags:
english, 2012
9
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
Mathilde Nizon
,
Céline Huber
,
Fabio De Leonardis
,
Rodolphe Merrina
,
Antonella Forlino
,
Mélanie Fradin
,
Beyhan Tuysuz
,
Bassam Y. Abu-Libdeh
,
Yasemin Alanay
,
Beate Albrecht
,
Lihadh Al-Gazali
,
Sarenur Yi
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 315 KB
Your tags:
english, 2012
10
LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani-like syndrome and affect disruptions in the extracellular matrix
Ramona Haji-Seyed-Javadi
,
Sahar Jelodari-Mamaghani
,
Seyed Hassan Paylakhi
,
Shahin Yazdani
,
Naveed Nilforushan
,
Jian-Bing Fan
,
Brandy Klotzle
,
Mohammad Jafar Mahmoudi
,
Mohammad Jafar Ebrahimian
,
Noori
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 360 KB
Your tags:
english, 2012
11
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Jorieke E.H. Bergman
,
Nicole Janssen
,
Almer M. van der Sloot
,
Hermien E.K. de Walle
,
Jeroen Schoots
,
Nanna D. Rendtorff
,
Lisbeth Tranebjærg
,
Lies H. Hoefsloot
,
Conny M.A. van Ravenswaaij-Arts
,
Robert
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 399 KB
Your tags:
english, 2012
12
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9
An-Ping Chen
,
Min-Hwang Chang
,
Michael F. Romero
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 430 KB
Your tags:
english, 2012
13
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
Marian Kroos
,
Marianne Hoogeveen-Westerveld
,
Helen Michelakakis
,
Robert Pomponio
,
Ans Van der Ploeg
,
Dicky Halley
,
Arnold Reuser
,
GAA Database Consortium:
,
Persephone Augoustides-Savvopoulou
,
Margreet
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 148 KB
Your tags:
english, 2012
14
Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees
Qiaomeng Qiu
,
Ronghua Li
,
Pingping Jiang
,
Ling Xue
,
Yang Lu
,
Yaman Song
,
Jungang Han
,
Zhongqiu Lu
,
Shaoce Zhi
,
Jun Qin Mo
,
Min-Xin Guan
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 508 KB
Your tags:
english, 2012
15
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis
David L. Masica
,
Patrick R. Sosnay
,
Garry R. Cutting
,
Rachel Karchin
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 253 KB
Your tags:
english, 2012
16
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Christine P. Diggle
,
David A. Parry
,
Clare V. Logan
,
Paul Laissue
,
Carolina Rivera
,
Carlos Martín Restrepo
,
Dora J. Fonseca
,
Joanne E. Morgan
,
Yannick Allanore
,
Michaela Fontenay
,
Julien Wipff
,
Mathil
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 431 KB
Your tags:
english, 2012
17
Paralogous annotation of disease-causing variants in long QT syndrome genes
James S. Ware
,
Roddy Walsh
,
Fiona Cunningham
,
Ewan Birney
,
Stuart A. Cook
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 182 KB
Your tags:
english, 2012
18
Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB
Christelle Borel
,
Eugenia Migliavacca
,
Audrey Letourneau
,
Maryline Gagnebin
,
Frédérique Béna
,
M. Reza Sailani
,
Emmanouil T. Dermitzakis
,
Andrew J. Sharp
,
Stylianos E. Antonarakis
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 364 KB
Your tags:
english, 2012
19
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients
Jukka Kantelinen
,
Minttu Kansikas
,
Satu Candelin
,
Heather Hampel
,
Betsy Smith
,
Liisa Holm
,
Reetta Kariola
,
Minna Nyström
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 394 KB
Your tags:
english, 2012
20
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies
Andrea Klein
,
Suzanne Lillis
,
Iulia Munteanu
,
Mariacristina Scoto
,
Haiyan Zhou
,
Ros Quinlivan
,
Volker Straub
,
Adnan Y. Manzur
,
Helen Roper
,
Pierre-Yves Jeannet
,
Wojtek Rakowicz
,
David Hilton Jones
,
Uf
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 82 KB
Your tags:
english, 2012
21
In memory of David L. Rimoin, MD, PhD (1936–2012)
Haig H. Kazazian
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2012
22
Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics
Sean Tavtigian
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 90 KB
Your tags:
english, 2012
23
Tandem repeat polymorphisms as modulators of biological function and dysfunction
Anthony J. Hannan
Journal:
Human Mutation
Year:
2012
Language:
english
File:
PDF, 90 KB
Your tags:
english, 2012
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
×
×