Suchergebnisse - "COL2A1 protein, human"

PubPharm (468)

1

Whole-Transcriptome Sequencing of Knee Joint Cartilage from Kashin-Beck Disease and Osteoarthritis Patients

enthalten in: International journal of molecular sciences | 2024

von Han, L. | Cheng, B. | Wei, W. | +6

2

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity

enthalten in: Bone | 2024

von Viakhireva, I. | Bychkov, I. | Markova, T. | +6

3

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

enthalten in: Calcified tissue international | 2023

von Ma, J. | Zhang, Y. | Ding, X. | +8

4

Cervical Instability and Quadriparesis Requiring Stabilization in Pediatric Patient Caused by a Mutation in COL2A1

enthalten in: World neurosurgery | 2023

von Pandey, A. | Giantini-Larsen, A. | Greenfield, J.

5

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations

enthalten in: Genes | 2023

von Jacobson, A. | Besirli, C. | Bohnsack, B.

6

Generation of pigs with humanized type II collagen by precise human COL2A1 gene knock-in

enthalten in: Journal of genetics and genomics = Yi chuan xue bao | 2023

von Lan, T. | Zheng, Y. | Suo, Y. | +16

7

Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis

enthalten in: Stem cell research | 2023

von Yammine, K. | Mirda Abularach, S. | Sampurno, L. | +3

8

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants

enthalten in: Bone | 2023

von Tüysüz, B. | Kasap, B. | Sarıtaş, M. | +8

9

Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions : A genetic association study and in silico analysis

enthalten in: Archives of oral biology | 2022

von Kalmari, A. | Arash, V. | Colagar, A.

10

Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia

enthalten in: Bone | 2022

von Luo, Z. | Li, H. | Yang, L. | +2

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