Found: 14
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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 649, doi. 10.1007/s00439-020-02238-z
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- Article
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-20939-5
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- Article
Thalassaemia Patients with Polymorphism of COL1A1 Sp1 are at Greater Risk of Spine Degenerative Changes.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2023, v. 33, n. 12, p. 1379, doi. 10.29271/jcpsp.2023.12.1379
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- Article
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137973
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- Article
Mutations in FYCO1 identified in families with congenital cataracts.
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- Molecular Vision, 2020, v. 26, p. 334
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- Article
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
- Published in:
- Molecular Vision, 2020, v. 26, p. 14
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- Article
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00208-7
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- Article
Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
- Published in:
- 2017
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- Correction Notice
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167562
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- Article
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
- Published in:
- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0162620
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- Article
A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.
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- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157005
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- Article
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
- Published in:
- 2017
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- Publication type:
- Correction Notice
12 MONTH'S ASSESSMENT OF CLINICAL EFFICACY OF RESIN MODIFIED GLASS IONOMER CEMENT AND FLOWABLE COMPOSITES IN RESTORATION OF NON-CARIOUS CERVICAL LESIONS, A RANDOMIZED CLINICAL TRIAL.
- Published in:
- Journal of Ayub Medical College Abbottabad - Pakistan, 2023, v. 35, n. 1, p. 7, doi. 10.55519/JAMC-01-10780
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- Article
EFFECT OF DENTAL PROXIMAL RESTORATIONS ON PERIODONTAL HEALTH IN PATIENTS.
- Published in:
- Journal of Ayub Medical College Abbottabad - Pakistan, 2022, v. 34, p. 987, doi. 10.55519/JAMC-04-S4-10454
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- Article