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内部出版物
Wiley电子期刊(3)
SpringerLink电子期刊(6)
Elsevier电子期刊(14)
在“
Elsevier电子期刊
”中,
命中:
14
条,耗时:小于0.01 秒
在所有数据库中总计命中:
23
条
1.
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
作者:
Kristien Peeters
1
;
2
;
Ivan Litvinenko
3
;
Bob Asselbergh
2
;
4
;
Leonardo Almeida-Souza
2
;
5
;
Teodora Chamova
6
;
Thomas Geuens
2
;
5
;
Elke Ydens
2
;
5
;
Magdalena Zimo¨½
1
;
2
;
Joy Irobi
4
;
Els De Vriendt
1
;
2
;
Vicky De Winter
2
;
5
;
Tinne Ooms
1
;
2
;
Vincent Timmerman
2
;
5
;
Ivailo
Tournev
6
;
7
;
9
;
Albena Jordanova
1
;
2
;
8
;
9
;
albena.jordanova@molgen.vib-ua.be
刊名:The American Journal of Human Genetics
出版年:2013
2.
Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1
作者:
Velina Guergueltcheva
;
Dimitar?N. Azmanov
;
Dora Angelicheva
;
Katherine?R. Smith
;
Teodora Chamova
;
Laura Florez
;
Michael Bynevelt
;
Thai Nguyen
;
Sylvia Cherninkova
;
Veneta Bojinova
;
Ara Kaprelyan
;
Lyudmila Angelova
;
Bharti Morar
;
David Ch
;
ler
;
Radka Kaneva
;
Melanie Bahlo
;
Ivailo
Tournev
;
Luba Kalaydjieva
刊名:The American Journal of Human Genetics
出版年:2012
3.
Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3
作者:
Jan Senderek
;
Sean M. Garvey
;
Michael Krieger
;
Velina Guergueltcheva
;
Andoni Urtizberea
;
Andreas Roos
;
Miriam Elbracht
;
Claudia Stendel
;
Ivailo
Tournev
;
Violeta Mihailova
;
Howard Feit
;
Jeff Tramonte
;
Peter Hedera
;
Kristy Crooks
;
Carsten Bergmann
;
Sabine Rudnik-Schö
;
neborn
;
Klaus Zerres
;
Hanns Lo
刊名:The American Journal of Human Genetics
出版年:2009
4.
Null Mutations in LTBP2
作者:
Manir Ali
;
Martin McKibbin
;
Adam Booth
;
David A. Parry
;
Payal Jain
;
S. Amer Riazuddin
;
J. Fielding Hejtmancik
;
Shaheen N. Khan
;
Sabika Firasat
;
Mike Shires
;
David F. Gilmour
;
Katherine Towns
;
Anna-Louise Murphy
;
Dimitar Azmanov
;
Ivailo
Tournev
;
Sylvia Cherninkova
;
Hussain Jafri
;
Yasmin Raashid
;
Carm
刊名:The American Journal of Human Genetics
出版年:2009
5.
Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy
作者:
Buzhov
;
Borian T.
;
Lemmers
;
Richard J.L.F.
;
Tournev
;
Ivailo
;
van der Wielen
;
Michiel J.R.
;
et. al.
关键词:
FSHD
;
Facioscapulohumeral muscular dystrophy
;
D4Z4
;
Mosaicism
;
Non-penetrance
刊名:Neuromuscular Disorders
出版年:2005
6.
NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24
作者:
Hunter
;
Michael
;
Angelicheva
;
Dora
;
Tournev
;
Ivailo
;
Ingley
;
Evan
;
Chan
;
Dick C.
;
Watts
;
Gerald F.
;
et. al.
刊名:Biochemical and Biophysical Research Communications
出版年:2005
7.
125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23??????25 April 2004, Naarden, The Netherlands
作者:
Kalaydjieva
;
Luba
;
Lochm??ller
;
Hanns
;
Tournev
;
Ivailo
;
Baas
;
Frank
;
Beres
;
Judit
;
Colomer
;
Jaume
;
et. al.
刊名:Neuromuscular Disorders
出版年:2005
8.
Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map
作者:
Hantke
;
Janina
;
Rogers
;
Tamara
;
French
;
Lisa
;
Tournev
;
Ivailo
;
Guergueltcheva
;
Velina
;
Urtizberea
;
Jon Andoni
;
et. al.
关键词:
ARCMT
;
Charcot&ndash
;
Marie&ndash
;
Tooth disease
;
Hereditary motor and sensory neuropathy Russe
;
Refined mapping
刊名:Neuromuscular Disorders
出版年:2003
9.
The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
作者:
Lev A. Zhivotovsky
;
Peter A. Underhill
;
Cengiz Cinnioğ
;
lu
;
Manfred Kayser
;
Bharti Morar
;
Toomas Kivisild
;
Rosaria Scozzari
;
Fulvio Cruciani
;
Giovanni Destro-Bisol
;
Gabriella Spedini
;
Geoffrey K. Chambers
;
Rene J. Herrera
;
Kiau Kiun Yong
;
David Gresham
;
Ivailo
Tournev
;
Marcus W. Feldman
;
Luba Ka
刊名:The American Journal of Human Genetics
出版年:2004
10.
Mutation History of the Roma/Gypsies
作者:
Bharti Morar
;
David Gresham
;
Dora Angelicheva
;
Ivailo
Tournev
;
Rebecca Gooding
;
Velina Guergueltcheva
;
Carolin Schmidt
;
Angela Abicht
;
Hanns Lochmü
;
ller
;
Attila Tordai
;
Lajos Kalmá
r ;
Melinda Nagy
;
Veronika Karcagi
;
Marc Jeanpierre
;
Agnes Herczegfalvi
;
David Beeson
;
Viswanathan Venkataraman
刊名:The American Journal of Human Genetics
出版年:2004
1
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