Found: 20
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Whole genome sequencing data of multiple individuals of Pakistani descent.
- Published in:
- Scientific Data, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41597-020-00664-2
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- Publication type:
- Article
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0136561
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- Publication type:
- Article
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 447, doi. 10.1007/s00439-018-1897-9
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- Publication type:
- Article
AESTHETIC REHABILITATION OF MAXILLARY ANTERIOR USING ALL CERAMIC RESTORATION.
- Published in:
- Guident, 2024, v. 17, n. 9, p. 22
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- Publication type:
- Article
ESTHETIC AND PROSTHODONTIC REHABILATION OF PYOGENIC GRANULOMA IN THE MAXILLARY ANTERIOR ZONE.
- Published in:
- Guident, 2024, v. 17, n. 7, p. 8
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- Publication type:
- Article
DIGITAL DENTISTRY IN PROSTHODONTICS: "TRANSFORMING PRECISION AND EFFICIENCY IN RESTORATIVE DENTISTRY".
- Published in:
- Guident, 2024, v. 17, n. 6, p. 8
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- Publication type:
- Article
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.
- Published in:
- PLoS ONE, 2024, v. 19, n. 10, p. 1, doi. 10.1371/journal.pone.0307266
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- Publication type:
- Article
on arriving in australia, 27 december 2000.
- Published in:
- 2022
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- Publication type:
- Poem
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4741, doi. 10.1093/hmg/ddx356
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- Publication type:
- Article
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
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- Publication type:
- Article
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 189, doi. 10.1002/humu.24146
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- Publication type:
- Article
Cover, Volume 42, Issue 2.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. i, doi. 10.1002/humu.24168
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- Publication type:
- Article
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006247
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- Publication type:
- Article
A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1461, doi. 10.3390/genes13081461
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- Publication type:
- Article
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
- Published in:
- Genes, 2017, v. 8, n. 9, p. 210, doi. 10.3390/genes8090210
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- Publication type:
- Article
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 10, p. 1, doi. 10.1371/journal.pgen.1009848
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- Publication type:
- Article
Late‐onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
- Published in:
- Aging Cell, 2019, v. 18, n. 6, p. N.PAG, doi. 10.1111/acel.13011
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- Publication type:
- Article
The Mythifcation of History and the Historification of Myth: Myth and Mimesis in Shashi Tharoor's The Great Indian Novel.
- Published in:
- Journal of Comparative Literature & Aesthetics, 2020, v. 43, n. 3, p. 84
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- Publication type:
- Article
Salman Rushdie as Diasporic Myth-Maker: Myth and Memory in Midnight's Children.
- Published in:
- 2020
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- Publication type:
- Literary Criticism
Queering Time: The Temporal Body as Queer Chronotope in Virginia Woolf's Orlando.
- Published in:
- Anglia: Journal of English Philology / Zeitschrift für Englische Philologie, 2020, v. 138, n. 1, p. 38, doi. 10.1515/ang-2020-0002
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- Publication type:
- Article