Found: 13
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Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
- Published in:
- Nature Genetics, 2002, v. 30, n. 3, p. 321, doi. 10.1038/ng835
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- Article
CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269
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- Article
Certification Grade Quantum Dot Luminescent Solar Concentrator Glazing with Optical Wireless Communication Capability for Connected Sustainable Architecture.
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- Advanced Energy Materials, 2024, v. 14, n. 16, p. 1, doi. 10.1002/aenm.202304006
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- Article
Robust Geometries for Second-Harmonic-Generation in Microrings Exhibiting a 4-Bar Symmetry.
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- Applied Sciences (2076-3417), 2020, v. 10, n. 24, p. 9047, doi. 10.3390/app10249047
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- Article
Automatic Initialization Methods for Photonic Components on a Silicon-Based Optical Switch.
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- Applied Sciences (2076-3417), 2019, v. 9, n. 9, p. 1843, doi. 10.3390/app9091843
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- Article
On the origin of second harmonic generation in silicon waveguides with silicon nitride cladding.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37660-x
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- Article
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus.
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- Human Molecular Genetics, 2003, v. 12, n. 14, p. 1651, doi. 10.1093/hmg/ddg188
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- Article
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.
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- 2000
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- Publication type:
- journal article
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from south tyrol.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 3, p. 394, doi. 10.1002/ana.410440318
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- Article
Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients<FN ID="fn1">Communicated by Mark H. Paalman</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #656 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/656.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 341, doi. 10.1002/humu.9185
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- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Publication type:
- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
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- Publication type:
- Article
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 99, doi. 10.1002/humu.9100
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- Article