Found: 24
Select item for more details and to access through your institution.
Familial cortical myoclonus with a mutation in NOL3.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 2, p. 175, doi. 10.1002/ana.23666
- By:
- Publication type:
- Article
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8
- By:
- Publication type:
- Article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
- Published in:
- Genome Biology, 2014, v. 15, n. 2, p. R53, doi. 10.1186/gb-2014-15-3-r53
- By:
- Publication type:
- Article
Progress in Ion Torrent semiconductor chip based sequencing.
- Published in:
- Electrophoresis, 2012, v. 33, n. 23, p. 3397, doi. 10.1002/elps.201200424
- By:
- Publication type:
- Article
Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Do High-Resolution CT Findings of Usual Interstitial Pneumonitis Obviate Lung Biopsy?
- Published in:
- Respiration, 2005, v. 72, n. 2, p. 134, doi. 10.1159/000084043
- By:
- Publication type:
- Article
Mortality in Patients Hospitalized for Asthma Exacerbations in the United States.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 6, p. 633, doi. 10.1164/rccm.200601-007OC
- By:
- Publication type:
- Article
SeqWare Query Engine: storing and searching sequence data in the cloud.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 1, doi. 10.1186/1471-2105-11-S12-S2
- By:
- Publication type:
- Article
Local alignment of generalized k-base encodedDNA sequence.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 347, doi. 10.1186/1471-2105-11-347
- By:
- Publication type:
- Article
High density SNP association study of a major autism linkage region on chromosome 17.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 6, p. 704, doi. 10.1093/hmg/ddm015
- By:
- Publication type:
- Article
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 365, doi. 10.1038/ng.780
- By:
- Publication type:
- Article
Mutations in PYCR1 cause cutis laxa with progeroid features.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
- By:
- Publication type:
- Article
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 999, doi. 10.1038/ng.166
- By:
- Publication type:
- Article
U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 1, p. 1, doi. 10.1371/journal.pgen.1000832
- By:
- Publication type:
- Article
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
- By:
- Publication type:
- Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
- Published in:
- Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
- By:
- Publication type:
- Article
Appendiceal Cancer and Peritoneal Carcinomatosis: A Report of 29 Cases.
- Published in:
- American Surgeon, 2006, v. 72, n. 8, p. 714, doi. 10.1177/000313480607200810
- By:
- Publication type:
- Article
Are physician estimates of asthma severity less accurate in black than in white patients?
- Published in:
- 2007
- By:
- Publication type:
- journal article
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning.
- Published in:
- Nature, 2008, v. 452, n. 7184, p. 215, doi. 10.1038/nature06745
- By:
- Publication type:
- Article
Emergency Department and Inpatient Health Care Services Utilization by the Elderly Population: Hurricane Sandy in The State of New Jersey.
- Published in:
- Disaster Medicine & Public Health Preparedness, 2018, v. 12, n. 6, p. 730, doi. 10.1017/dmp.2018.1
- By:
- Publication type:
- Article
Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 1, p. 304, doi. 10.1038/jid.2014.311
- By:
- Publication type:
- Article
Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 7, p. 304, doi. 10.1038/jid.2014.311
- By:
- Publication type:
- Article
Improving the efficiency of genomic loci capture usingoligonucleotide arrays for high throughput resequencing.
- Published in:
- BMC Genomics, 2009, v. 10, p. 646, doi. 10.1186/1471-2164-10-646
- By:
- Publication type:
- Article