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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1405, doi. 10.1038/ng.2776
By:
- Schaaf, Christian P;
- Gonzalez-Garay, Manuel L;
- Xia, Fan;
- Potocki, Lorraine;
- Gripp, Karen W;
- Zhang, Baili;
- Peters, Brock A;
- McElwain, Mark A;
- Drmanac, Radoje;
- Beaudet, Arthur L;
- Caskey, C Thomas;
- Yang, Yaping
Publication type:
Article
Differential transcriptomics in sarcoidosis lung and lymph node granulomas with comparisons to pathogen-specific granulomas.
Published in:
2020
By:
- Casanova, Nancy G.;
- Gonzalez-Garay, Manuel L.;
- Sun, Belinda;
- Bime, Christian;
- Sun, Xiaoguang;
- Knox, Kenneth S.;
- Crouser, Elliott D.;
- Sammani, Nora;
- Gonzales, Taylor;
- Natt, Bhupinder;
- Chaudhary, Sachin;
- Lussier, Yves;
- Garcia, Joe G. N.
Publication type:
journal article
Evidence for SH2 Domain-Containing 5′-Inositol Phosphatase-2 (SHIP2) Contributing to a Lymphatic Dysfunction.
Published in:
PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112548
By:
- Agollah, Germaine D.;
- Gonzalez-Garay, Manuel L.;
- Rasmussen, John C.;
- Tan, I-Chih;
- Aldrich, Melissa B.;
- Darne, Chinmay;
- Fife, Caroline E.;
- Guilliod, Renie;
- Maus, Erik A.;
- King, Philip D.;
- Sevick-Muraca, Eva M.
Publication type:
Article
Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.
Published in:
Molecular Syndromology, 2016, v. 7, n. 2, p. 87, doi. 10.1159/000445669
By:
- Messina-Baas, Olga;
- Gonzalez-Garay, Manuel L.;
- González-Huerta, Luz M.;
- Toral-López, Jaime;
- Cuevas-Covarrubias, Sergio A.
Publication type:
Article

Found: 4

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Differential transcriptomics in sarcoidosis lung and lymph node granulomas with comparisons to pathogen-specific granulomas.

Evidence for SH2 Domain-Containing 5′-Inositol Phosphatase-2 (SHIP2) Contributing to a Lymphatic Dysfunction.

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.