Ushbu ish iqtibos qilgan ishlar

21 ta ish

Ish: Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

   Sue Richards, Nazneen Aziz, Sherri J. Bale +9

   Maqola20156 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.382633

2. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

   Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan +11

   Maqola20122 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.036775

3. Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

   Annemarie J. van der Slot, Anne‐Marie Zuurmond, A. Bardoel +12

   Maqola20032 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.036793

4. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

   U. Schwarze, Tim Cundy, Shawna M. Pyott +35

   Maqola20122 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.036794

5. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17

   Ruud A. Bank, Simon P. Robins, Cisca Wijmenga +5

   Maqola19992 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.036795

6. Human Gene Mutation Database (HGMD^®): 2003 update

   Peter D. Stenson, Edward V. Ball, Matthew Mort +6

   Maqola20032 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.376705

7. Sarlavhasiz

   Boshqa1 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.883025

8. Sarlavhasiz

   Boshqa1 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.883026

9. Sarlavhasiz

   Boshqa1 iqtibos

   ABIABI:AkademIndex/openalex/2026.other.883027

10. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883028

11. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883029

12. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883030

13. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883031

14. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883032

15. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883033

16. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883034

17. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883035

18. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883036

19. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883037

20. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883038

21. Sarlavhasiz

    Boshqa1 iqtibos

    ABIABI:AkademIndex/openalex/2026.other.883039