OpenURL Connection Search

Select item for more details and to access through your institution.

Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1208, doi. 10.1002/humu.22373
By:
- Quadri, Marialuisa;
- Fang, Mingyan;
- Picillo, Marina;
- Olgiati, Simone;
- Breedveld, Guido J.;
- Graafland, Josja;
- Wu, Bin;
- Xu, Fengping;
- Erro, Roberto;
- Amboni, Marianna;
- Pappatà, Sabina;
- Quarantelli, Mario;
- Annesi, Grazia;
- Quattrone, Aldo;
- Chien, Hsin F.;
- Barbosa, Egberto R.;
- Oostra, Ben A.;
- Barone, Paolo;
- Wang, Jun;
- Bonifati, Vincenzo
Publication type:
Article
Functional Interaction Between SNPs and Microsatellite in the Transcriptional Regulation of Insulin-Like Growth Factor 1.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1289, doi. 10.1002/humu.22363
By:
- Chen, Holly Y.;
- Huang, Wei;
- Leung, Vincent H. K.;
- Fung, Simon L. M.;
- Ma, Suk Ling;
- Jiang, Hongling;
- Tang, Nelson L. S.
Publication type:
Article
The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ( MMCAT) Is Caused by Mutations in ADAMTS18.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1195, doi. 10.1002/humu.22374
By:
- Aldahmesh, Mohammed A.;
- Alshammari, Muneera J.;
- Khan, Arif O.;
- Mohamed, Jawahir Y.;
- Alhabib, Fatimah A.;
- Alkuraya, Fowzan S.
Publication type:
Article
HAPLOFIND: A New Method for High-Throughput mt DNA Haplogroup Assignment.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1189, doi. 10.1002/humu.22356
By:
- Vianello, Dario;
- Sevini, Federica;
- Castellani, Gastone;
- Lomartire, Laura;
- Capri, Miriam;
- Franceschi, Claudio
Publication type:
Article
Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1279, doi. 10.1002/humu.22362
By:
- Barnes, Aileen M.;
- Duncan, Geraldine;
- Weis, MaryAnn;
- Paton, William;
- Cabral, Wayne A.;
- Mertz, Edward L.;
- Makareeva, Elena;
- Gambello, Michael J.;
- Lacbawan, Felicitas L.;
- Leikin, Sergey;
- Fertala, Andrzej;
- Eyre, David R.;
- Bale, Sherri J.;
- Marini, Joan C.
Publication type:
Article
Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. iv, doi. 10.1002/humu.22194
By:
- Friedlander, Terence
Publication type:
Article
0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1298, doi. 10.1002/humu.22355
By:
- Srebniak, Malgorzata I.;
- Mout, Lisanne;
- Van Opstal, Diane;
- Galjaard, Robert‐Jan H.
Publication type:
Article
Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1226, doi. 10.1002/humu.22366
By:
- Chang, Sheng‐Wei;
- Mislankar, Mona;
- Misra, Chaitali;
- Huang, Nianyuan;
- DaJusta, Daniel G.;
- Harrison, Steven M.;
- McBride, Kim L.;
- Baker, Linda A.;
- Garg, Vidu
Publication type:
Article
Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1304, doi. 10.1002/humu.22359
By:
- Guilmatre, Audrey;
- Highnam, Gareth;
- Borel, Christelle;
- Mittelman, David;
- Sharp, Andrew J.
Publication type:
Article
Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser- Winter Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1242, doi. 10.1002/humu.22350
By:
- Johnston, Jennifer J.;
- Wen, Kuo‐Kuang;
- Keppler‐Noreuil, Kim;
- McKane, Melissa;
- Maiers, Jessica L.;
- Greiner, Alexander;
- Sapp, Julie C.;
- DeMali, Kris A.;
- Rubenstein, Peter A.;
- Biesecker, Leslie G.
Publication type:
Article
Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1269, doi. 10.1002/humu.22361
By:
- Keck, Mathilde;
- Andrini, Olga;
- Lahuna, Olivier;
- Burgos, Johanna;
- Cid, L. Pablo;
- Sepúlveda, Francisco V.;
- L‘Hoste, Sébastien;
- Blanchard, Anne;
- Vargas‐Poussou, Rosa;
- Lourdel, Stéphane;
- Teulon, Jacques
Publication type:
Article
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1200, doi. 10.1002/humu.22372
By:
- Krebs, Catharine E.;
- Karkheiran, Siamak;
- Powell, James C.;
- Cao, Mian;
- Makarov, Vladimir;
- Darvish, Hossein;
- Di Paolo, Gilbert;
- Walker, Ruth H.;
- Shahidi, Gholam Ali;
- Buxbaum, Joseph D.;
- De Camilli, Pietro;
- Yue, Zhenyu;
- Paisán‐Ruiz, Coro
Publication type:
Article
Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1250, doi. 10.1002/humu.22354
By:
- Tan, Xiaohui;
- Anzick, Sarah L.;
- Khan, Sikandar G.;
- Ueda, Takahiro;
- Stone, Gary;
- DiGiovanna, John J.;
- Tamura, Deborah;
- Wattendorf, Daniel;
- Busch, David;
- Brewer, Carmen C.;
- Zalewski, Christopher;
- Butman, John A.;
- Griffith, Andrew J.;
- Meltzer, Paul S.;
- Kraemer, Kenneth H.
Publication type:
Article
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. E2393, doi. 10.1002/humu.22376
By:
- Liu, Xiaoming;
- Jian, Xueqiu;
- Boerwinkle, Eric
Publication type:
Article
Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358
By:
- Blakely, Emma L.;
- Yarham, John W.;
- Alston, Charlotte L.;
- Craig, Kate;
- Poulton, Joanna;
- Brierley, Charlotte;
- Park, Soo‐Mi;
- Dean, Andrew;
- Xuereb, John H.;
- Anderson, Kirstie N.;
- Compston, Alistair;
- Allen, Chris;
- Sharif, Saba;
- Enevoldson, Peter;
- Wilson, Martin;
- Hammans, Simon R.;
- Turnbull, Douglass M.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1221, doi. 10.1002/humu.22360
By:
- Singh, Rajvir;
- Smith, Emily;
- Fathzadeh, Mohsen;
- Liu, Wenzhong;
- Go, Gwang‐Woong;
- Subrahmanyan, Lakshman;
- Faramarzi, Saeed;
- McKenna, William;
- Mani, Arya
Publication type:
Article
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1183, doi. 10.1002/humu.22364
By:
- Bean, Lora J.H.;
- Tinker, Stuart W.;
- Silva, Cristina;
- Hegde, Madhuri R.
Publication type:
Article
Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1216, doi. 10.1002/humu.22375
By:
- Cassa, Christopher A.;
- Tong, Mark Y.;
- Jordan, Daniel M.
Publication type:
Article
Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1231, doi. 10.1002/humu.22346
By:
- Nickerson, Michael L.;
- Im, Kate M.;
- Misner, Kevin J.;
- Tan, Wei;
- Lou, Hong;
- Gold, Bert;
- Wells, David W.;
- Bravo, Hector C.;
- Fredrikson, Karin M.;
- Harkins, Timothy T.;
- Milos, Patrice;
- Zbar, Berton;
- Linehan, W. Marston;
- Yeager, Meredith;
- Andresson, Thorkell;
- Dean, Michael;
- Bova, G. Steven
Publication type:
Article
A Disruptive Paradigm of Genetic Data Sharing and Analysis.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. iv, doi. 10.1002/humu.22195
By:
- Cotton, Richard
Publication type:
Article

Found: 20