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Volume 28; Issue 6
Main
Human Mutation
Volume 28; Issue 6
Human Mutation
Volume 28; Issue 6
1
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
Inga Ebermann
,
Martin Walger
,
Hendrik P.N. Scholl
,
Peter Charbel Issa
,
Christoph Lüke
,
Gudrun Nürnberg
,
Ruth Lang-Roth
,
Christian Becker
,
Peter Nürnberg
,
Hanno J. Bolz
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 424 KB
Your tags:
english, 2007
2
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain
Brigitte Chhin
,
Minoru Hatayama
,
Dominique Bozon
,
Miyuki Ogawa
,
Patric Schön
,
Takahide Tohmonda
,
François Sassolas
,
Jun Aruga
,
Anna-Gaëlle Valard
,
Su-Chiung Chen
,
Patrice Bouvagnet
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 394 KB
Your tags:
english, 2007
3
Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants
Thomas Hocker
,
Hensin Tsao
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 632 KB
Your tags:
english, 2007
4
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations
Marguerite Neerman-Arbez
,
Philippe de Moerloose
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 284 KB
Your tags:
english, 2007
5
PhenCode: connecting ENCODE data with mutations and phenotype
Belinda Giardine
,
Cathy Riemer
,
Tim Hefferon
,
Daryl Thomas
,
Fan Hsu
,
Julian Zielenski
,
Yunhua Sang
,
Laura Elnitski
,
Garry Cutting
,
Heather Trumbower
,
Andrew Kern
,
Robert Kuhn
,
George P. Patrinos
,
Jim
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 627 KB
Your tags:
english, 2007
6
Progress in understanding the biology of the human mutagen LINE-1
Daria V. Babushok
,
Haig H. Kazazian Jr.
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 355 KB
Your tags:
english, 2007
7
Highly sensitive DNA detection and point mutation identification: an electrochemical approach based on the combined use of ligase and reverse molecular beacon
Zai-Sheng Wu
,
Jian-Hui Jiang
,
Guo-Li Shen
,
Ru-Qin Yu
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 279 KB
Your tags:
english, 2007
8
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity
Atsuhiro Kanda
,
James S. Friedman
,
Koji M. Nishiguchi
,
Anand Swaroop
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 806 KB
Your tags:
english, 2007
9
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
K. Wimmer
,
X. Roca
,
H. Beiglböck
,
T. Callens
,
J. Etzler
,
A.R. Rao
,
A.R. Krainer
,
C. Fonatsch
,
L. Messiaen
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 325 KB
Your tags:
english, 2007
10
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
Audrey Petitjean
,
Ewy Mathe
,
Shunsuke Kato
,
Chikashi Ishioka
,
Sean V. Tavtigian
,
Pierre Hainaut
,
Magali Olivier
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2007
11
Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients
Alberto Cascón
,
Beatriz Escobar
,
Cristina Montero-Conde
,
Cristina Rodríguez-Antona
,
Sergio Ruiz-Llorente
,
Ana Osorio
,
Fátima Mercadillo
,
Rocío Letón
,
José M. Campos
,
José M. García-Sagredo
,
Javier Ben
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 433 KB
Your tags:
english, 2007
12
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy
Petra Liskova
,
Stephen J. Tuft
,
Rhian Gwilliam
,
Neil D. Ebenezer
,
Katerina Jirsova
,
Quincy Prescott
,
Radka Martincova
,
Marike Pretorius
,
Neil Sinclair
,
David L. Boase
,
Margaret J. Jeffrey
,
Panos Delou
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 99 KB
Your tags:
english, 2007
13
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
Valeska Frank
,
Nadina Ortiz Brüchle
,
Silke Mager
,
Susanna G. M. Frints
,
Axel Bohring
,
Gabriele du Bois
,
Irmgard Debatin
,
Heide Seidel
,
Jan Senderek
,
Nesrin Besbas
,
Unda Todt
,
Christian Kubisch
,
Tiemo
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 452 KB
Your tags:
english, 2007
14
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms
Allan J. Richards
,
Maureen Laidlaw
,
Sarah P. Meredith
,
Pallavi Shankar
,
Arabella V. Poulson
,
John D. Scott
,
Martin P. Snead
Journal:
Human Mutation
Year:
2007
Language:
english
File:
PDF, 412 KB
Your tags:
english, 2007
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