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  • 1-10 of  60 results for ""Collagen Type XI""
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Academic Journal

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.

  • Authors : Boysen KB; Department of Ophtalmology, Rigshospitalet , Glostrup, Denmark.; La Cour M

Subjects: Mutation*; Arthritis/Arthritis/Arthritis/*prevention & control ; Collagen Type II/Collagen Type II/Collagen Type II/*genetics Stickler syndrome, type 1; Stickler syndrome, type 2

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2020 Jun; Vol. 41 (3), pp. 223-234. Date of Electronic Publication: 2020 Apr 21.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

  • Authors : Khan AO; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.

Subjects: Genetic Testing* ; Mutation* ; Phenotype*Stickler syndrome, type 1

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1628. Date of Electronic Publication: 2021 May 05.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel somatic alterations underlie Chinese papillary thyroid carcinoma.

  • Authors : Yang C; Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.; Xu W

Subjects: Mutation*; Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics ; Thyroid Cancer, Papillary/Thyroid Cancer, Papillary/Thyroid Cancer, Papillary/*genetics

  • Source: Cancer biomarkers : section A of Disease markers [Cancer Biomark] 2020; Vol. 27 (4), pp. 445-460.Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101256509 Publication Model: Print Cited Medium: Internet ISSN: 1875-8592

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Academic Journal

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.

  • Authors : Richards AJ; Department of Pathology, University of Cambridge, Cambridge, UK.; McNinch A

Subjects: Introns* ; Mutation* ; RNA Splicing*

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 May; Vol. 20 (5), pp. 552-8. Date of Electronic Publication: 2011 Dec 21.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.

  • Authors : Zuazo F; a Department of Ophthalmology and Visual Sciences , Carver College of Medicine, University of Iowa , Iowa City , IA, USA.; Dumitrescu AV

Subjects: Mutation*; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/*genetics ; Arthritis/Arthritis/Arthritis/*pathology Stickler syndrome, type 1

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2018 Oct; Vol. 39 (5), pp. 631-636. Date of Electronic Publication: 2018 Aug 29.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  60 results for ""Collagen Type XI""