Found: 13
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Diverse monogenic subforms of human spermatogenic failure.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-35661-z
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- Publication type:
- Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
- Published in:
- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
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- Publication type:
- Article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
- Published in:
- 2016
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- Publication type:
- journal article
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 2, p. 636, doi. 10.1172/JCI77435
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- Publication type:
- Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
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- Publication type:
- Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
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- Publication type:
- Article
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0359-z
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- Publication type:
- Article
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 8, p. 1, doi. 10.1371/journal.pgen.1008691
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- Publication type:
- Article
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
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- Publication type:
- Article
Correction: The Retromer Complex Is Required for Rhodopsin Recycling and Its Loss Leads to Photoreceptor Degeneration.
- Published in:
- 2015
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- Publication type:
- Correction Notice
The Retromer Complex Is Required for Rhodopsin Recycling and Its Loss Leads to Photoreceptor Degeneration.
- Published in:
- PLoS Biology, 2014, v. 12, n. 4, p. 1, doi. 10.1371/journal.pbio.1001847
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- Publication type:
- Article
<i>Drosophila</i> Tempura, a Novel Protein Prenyltransferase α Subunit, Regulates Notch Signaling Via Rab1 and Rab11.
- Published in:
- PLoS Biology, 2014, v. 12, n. 1, p. 1, doi. 10.1371/journal.pbio.1001777
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- Publication type:
- Article
Crag Is a GEF for Rab11 Required for Rhodopsin Trafficking and Maintenance of Adult Photoreceptor Cells
- Published in:
- PLoS Biology, 2012, v. 10, n. 12, p. 1, doi. 10.1371/journal.pbio.1001438
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- Publication type:
- Article