OpenURL Connection Search

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

Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 200, doi. 10.1002/humu.22723
By:
- Kranenburg, Melissa;
- Hoogeveen‐Westerveld, Marianne;
- Nellist, Mark
Publication type:
Article
Identification and Functional Analysis of a SLC33 A1: c.339 T> G (p. Ser113 Arg) Variant in the Original SPG42 Family.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 240, doi. 10.1002/humu.22732
By:
- Mao, Fei;
- Li, Zhaohui;
- Zhao, Baoyue;
- Lin, Pengfei;
- Liu, Pingting;
- Zhai, Meng;
- Liu, Qiji;
- Shao, Changshun;
- Sun, Wenjie;
- Gong, Yaoqin
Publication type:
Article
Single Nucleotide Differences (SNDs) Continue to Contaminate the dbSNP Database With Consequences for Human Genomics and Health.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 196, doi. 10.1002/humu.22735
By:
- Arthur, Jonathan W.;
- Cheung, Florence S.G.;
- Reichardt, Juergen K.V.
Publication type:
Article
Genome Annotation by Shotgun Inactivation of a Native Gene in Hemizygous Cells: Application to BRCA2 with Implication of Hypomorphic Variants.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 260, doi. 10.1002/humu.22736
By:
- Ghosh, Soma;
- Bhunia, Anil K.;
- Paun, Bogdan C.;
- Gilbert, Samuel F.;
- Dhru, Urmil;
- Patel, Kalpesh;
- Kern, Scott E.
Publication type:
Article
MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. E2413, doi. 10.1002/humu.22720
By:
- Castellana, Stefano;
- Rónai, Judit;
- Mazza, Tommaso
Publication type:
Article
Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 210, doi. 10.1002/humu.22725
By:
- Acedo, Alberto;
- Hernández‐Moro, Cristina;
- Curiel‐García, Álvaro;
- Díez‐Gómez, Beatriz;
- Velasco, Eladio A.
Publication type:
Article
ProKinO: A Unified Resource for Mining the Cancer Kinome.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 175, doi. 10.1002/humu.22726
By:
- McSkimming, Daniel Ian;
- Dastgheib, Shima;
- Talevich, Eric;
- Narayanan, Anish;
- Katiyar, Samiksha;
- Taylor, Susan S.;
- Kochut, Krys;
- Kannan, Natarajan
Publication type:
Article
Vanno: A Visualization-Aided Variant Annotation Tool.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 167, doi. 10.1002/humu.22684
By:
- Huang, Po‐Jung;
- Lee, Chi‐Ching;
- Tan, Bertrand Chin‐Ming;
- Yeh, Yuan‐Ming;
- Huang, Kuo‐Yang;
- Gan, Ruei‐Chi;
- Chen, Ting‐Wen;
- Lee, Cheng‐Yang;
- Yang, Sheng‐Ting;
- Liao, Chung‐Shou;
- Liu, Hsuan;
- Tang, Petrus
Publication type:
Article
Vari SNP, A Benchmark Database for Variations From db SNP.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 161, doi. 10.1002/humu.22727
By:
- Schaafsma, Gerard C.P.;
- Vihinen, Mauno
Publication type:
Article
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-t RNA Synthetase ( NARS2).
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 222, doi. 10.1002/humu.22728
By:
- Vanlander, Arnaud V.;
- Menten, Björn;
- Smet, Joél;
- De Meirleir, Linda;
- Sante, Tom;
- De Paepe, Boel;
- Seneca, Sara;
- Pearce, Sarah F.;
- Powell, Christopher A.;
- Vergult, Sarah;
- Michotte, Alex;
- De Latter, Elien;
- Vantomme, Lies;
- Minczuk, Michal;
- Coster, Rudy
Publication type:
Article
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 187, doi. 10.1002/humu.22729
By:
- Bacrot, Séverine;
- Doyard, Mathilde;
- Huber, Céline;
- Alibeu, Olivier;
- Feldhahn, Niklas;
- Lehalle, Daphné;
- Lacombe, Didier;
- Marlin, Sandrine;
- Nitschke, Patrick;
- Petit, Florence;
- Vazquez, Marie‐Paule;
- Munnich, Arnold;
- Cormier‐Daire, Valérie
Publication type:
Article
Shotgun Approach to Functional Annotation of Genes.
Published in:
2015
By:
- Tavtigian, Sean V.
Publication type:
Other
Contents.
Published in:
2015
Publication type:
Other
ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 232, doi. 10.1002/humu.22730
By:
- Sakai, Chika;
- Yamaguchi, Seiji;
- Sasaki, Masayuki;
- Miyamoto, Yusaku;
- Matsushima, Yuichi;
- Goto, Yu‐ichi
Publication type:
Article
Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 191, doi. 10.1002/humu.22731
By:
- Cho, Sung Yoon;
- Asharani, P.V.;
- Kim, Ok‐Hwa;
- Iida, Aritoshi;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Nishimura, Gen;
- Ki, Chang‐Seok;
- Hong, Geehay;
- Kim, Su Jin;
- Sohn, Young Bae;
- Park, Sung Won;
- Lee, Jieun;
- Kwun, Younghee;
- Carney, Thomas J.;
- Huh, Rimm;
- Ikegawa, Shiro;
- Jin, Dong‐Kyu
Publication type:
Article
High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 250, doi. 10.1002/humu.22734
By:
- Kovac, Michal B.;
- Kovacova, Monika;
- Bachraty, Hynek;
- Bachrata, Katarina;
- Piscuoglio, Salvatore;
- Hutter, Pierre;
- Ilencikova, Denisa;
- Bartosova, Zdena;
- Tomlinson, Ian;
- Roethlisberger, Benno;
- Heinimann, Karl
Publication type:
Article
Navigating through Genomics Data to Deliver Testable Predictions.
Published in:
2015
By:
- Alexov, Emil
Publication type:
Other
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 279, doi. 10.1002/humu.22755
By:
- Braunholz, Diana;
- Obieglo, Carolin;
- Parenti, Ilaria;
- Pozojevic, Jelena;
- Eckhold, Juliane;
- Reiz, Benedikt;
- Brænne, Ingrid;
- Wendt, Kerstin S.;
- Watrin, Erwan;
- Vodopiutz, Julia;
- Rieder, Harald;
- Gillessen‐Kaesbach, Gabriele;
- Kaiser, Frank J.
Publication type:
Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
By:
- Schwartzentruber, Jeremy;
- Buhas, Daniela;
- Majewski, Jacek;
- Sasarman, Florin;
- Papillon‐Cavanagh, Simon;
- Thiffault, Isabelle;
- Sheldon, Katherine M.;
- Massicotte, Christine;
- Patry, Lysanne;
- Simon, Mariella;
- Zare, Amir S.;
- McKernan, Kevin J.;
- Consortium, FORGE Canada;
- Michaud, Jacques;
- Boles, Richard G.;
- Deal, Cheri L.;
- Desilets, Valerie;
- Shoubridge, Eric A.;
- Samuels, Mark E.
Publication type:
Article
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 270, doi. 10.1002/humu.22737
By:
- Riecken, Lars Björn;
- Tawamie, Hasan;
- Dornblut, Carsten;
- Buchert, Rebecca;
- Ismayel, Amina;
- Schulz, Alexander;
- Schumacher, Johannes;
- Sticht, Heinrich;
- Pohl, Katja J.;
- Cui, Yan;
- Reis, André;
- Morrison, Helen;
- Abou Jamra, Rami
Publication type:
Article

Found: 20