Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 10

Results: 18

Identification of novel rare mutations of DACT1 in human neural tube defects.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1450, doi. 10.1002/humu.22121

By:

Shi, Yan;
Ding, Yi;
Lei, Yun-Ping;
Yang, Xue-Yan;
Xie, Guo-Ming;
Wen, Jun;
Cai, Chun-Quan;
Li, Hong;
Chen, Ying;
Zhang, Ting;
Wu, Bai-Lin;
Jin, Li;
Chen, Ye-Guang;
Wang, Hong-Yan

Publication type:

Article

A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. E2356, doi. 10.1002/humu.22154

By:

Bellgard, Matthew I;
Macgregor, Andrew;
Janon, Fred;
Harvey, Adam;
O'Leary, Peter;
Hunter, Adam;
Dawkins, Hugh

Publication type:

Article

Conserved and quickly evolving immunome genes have different evolutionary paths.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1456, doi. 10.1002/humu.22125

By:

Ortutay, Csaba;
Vihinen, Mauno

Publication type:

Article

Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. E2367, doi. 10.1002/humu.22158

By:

Bhartiya, Deeksha;
Talwar, Jatin;
Hasija, Yasha;
Scaria, Vinod

Publication type:

Article

Gaucher disease paradigm: From ERAD to comorbidity.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1398, doi. 10.1002/humu.22124

By:

Bendikov-Bar, Inna;
Horowitz, Mia

Publication type:

Article

Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1497, doi. 10.1002/humu.22135

By:

Stavrou, Eleana F.;
Goriely, Anne

Publication type:

Article

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1429, doi. 10.1002/humu.22175

By:

Alazami, Anas M.;
Al-Owain, Mohammad;
Alzahrani, Fatema;
Shuaib, Taghreed;
Al-Shamrani, Hussain;
Al-Falki, Yahya H.;
Al-Qahtani, Saleh M.;
Alsheddi, Tarfa;
Colak, Dilek;
Alkuraya, Fowzan S.

Publication type:

Article

Classic EDS: Simply a type v collagen deficiency story?

Published in:

Human Mutation, 2012, v. 33, n. 10, p. v, doi. 10.1002/humu.22584

By:

Wenstrup, Richard

Publication type:

Article

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1474, doi. 10.1002/humu.22130

By:

Abicht, Angela;
Dusl, Marina;
Gallenmüller, Constanze;
Guergueltcheva, Velina;
Schara, Ulrike;
Della Marina, Adele;
Wibbeler, Eva;
Almaras, Sybille;
Mihaylova, Violeta;
von der Hagen, Maja;
Huebner, Angela;
Chaouch, Amina;
Müller, Juliane S.;
Lochmüller, Hanns

Publication type:

Article

Solving bottlenecks in data sharing in the life sciences.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1494, doi. 10.1002/humu.22123

By:

Dalgleish, Raymond;
Molero, Eva;
Kidd, Richard;
Jansen, Mascha;
Past, Daniela;
Robl, Anika;
Mons, Barend;
Diaz, Carlos;
Mons, Albert;
Brookes, Anthony J.

Publication type:

Article

Molecular characterization of Joubert syndrome in Saudi Arabia.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1423, doi. 10.1002/humu.22134

By:

Alazami, Anas M.;
Alshammari, Muneera J.;
Salih, Mustafa A.;
Alzahrani, Fatema;
Hijazi, Hadia;
Seidahmed, Mohammed Z.;
Abu Safieh, Leen;
Aldosary, Mazhor;
Khan, Arif O.;
Alkuraya, Fowzan S.

Publication type:

Article

Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1408, doi. 10.1002/humu.22127

By:

Sim, Chou Hung;
Gabriel, Kipros;
Mills, Ryan D.;
Culvenor, Janetta G.;
Cheng, Heung-Chin

Publication type:

Article

The mechanism of BH<sub>4</sub>-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1464, doi. 10.1002/humu.22128

By:

Sarkissian, Christineh N.;
Ying, Ming;
Scherer, Tanja;
Thöny, Beat;
Martinez, Aurora

Publication type:

Article

The Genome Generation by Elizabeth Finkel.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1397, doi. 10.1002/humu.22140

By:

Kraaijeveld, Ken

Publication type:

Article

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1435, doi. 10.1002/humu.22122

By:

Markus, Barak;
Narkis, Ginat;
Landau, Daniella;
Birk, Ruth Z.;
Cohen, Idan;
Birk, Ohad S.

Publication type:

Article

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1444, doi. 10.1002/humu.22133

By:

Puig-Hervás, Maria Trinidad;
Temtamy, Samia;
Aglan, Mona;
Valencia, Maria;
Martínez-Glez, Víctor;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Ashour, Adel M.;
Amr, Khalda;
Pulido, Veronica;
Guillén-Navarro, Encarna;
Lapunzina, Pablo;
Caparrós-Martín, José A.;
Ruiz-Perez, Victor L.

Publication type:

Article

PRRT2 Mutations are the major cause of benign familial infantile seizures.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1439, doi. 10.1002/humu.22126

By:

Schubert, Julian;
Paravidino, Roberta;
Becker, Felicitas;
Berger, Andrea;
Bebek, Nerses;
Bianchi, Amedeo;
Brockmann, Knut;
Capovilla, Giuseppe;
Dalla Bernardina, Bernardo;
Fukuyama, Yukio;
Hoffmann, Georg F.;
Jurkat-Rott, Karin;
Anttonen, Anna-Kaisa;
Kurlemann, Gerhard;
Lehesjoki, Anna-Elina;
Lehmann-Horn, Frank;
Mastrangelo, Massimo;
Mause, Ulrike;
Müller, Stephan;
Neubauer, Bernd

Publication type:

Article

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1485, doi. 10.1002/humu.22137

By:

Symoens, Sofie;
Syx, Delfien;
Malfait, Fransiska;
Callewaert, Bert;
De Backer, Julie;
Vanakker, Olivier;
Coucke, Paul;
De Paepe, Anne

Publication type:

Article