Research output per year
Research output per year
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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Montero-Lopez, R., Farman, M. R., Högler, F., Rehder, C., Malli, T., Webersinke, G., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., Del Angel, G., Nading, E. B., Huggins, E., Rush, E. T., Tauer, J. T., Kishnani, P. S. & Högler, W., 11 Sept 2025, (E-pub ahead of print) In: Journal of Bone and Mineral Research. 11 p., zjaf124.Research output: Contribution to journal › Article › peer-review
Open Access -
The ALPL gene variant project: results of the first 100 reclassified variants
Farman, M. R., Malli, T., Rehder, C., Webersinke, G., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., Del Angel, G., Barbazza, F., Shojaei, S., Ebner-Jahn, J., Högler, F., Nading, E. B., Huggins, E., Rush, E. T., El-Gazzar, A. & Tauer, J. T. & 2 others, , Jun 2025, In: JBMR plus. 9, 6, 11 p., ziaf044.Research output: Contribution to journal › Article › peer-review
Open Access -
Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up
Montero-Lopez, R., Farman, M., Högler, F., Saraff, V. & Högler, W., 2024, In: Horm Res Paed. 1 p.Research output: Contribution to journal › Review article › peer-review
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First results of the Global ALPL gene variant classification project
Farman, M., Rehder, C., Malli, T., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., del Angel, G., Högler, F., Barbazza, F., Ebner-Jahn, J., Nading, E., Huggins, E., Rush, E., Kishnani, P., Webersinke, G. & Högler, W., 2024, 1 p.Research output: Other contribution
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The Global ALPL gene variant classification project: Dedicated to deciphering variants
Farman, M., Rehder, C., Malli, T., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G., Linglart, A., Ozono, K., Seefried, L., del Angel, G., Webersinke, G., Barbazza, F., John, L., Delana Mudiyanselage, S., Högler, F., Nading, E., Huggins, E., Rush, E., El-Gazzar, A. & Kishnani, P. & 1 others, , Jan 2024, In: Bone. 178, 1 p., 116947.Research output: Contribution to journal › Article › peer-review
Open Access
Projects
- 1 Active
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Funktionelle Testung von Varianten unklarer Signifikanz im ALPL Gen als Ursache der seltenen Systemerkrankung Hypophosphatasie
Farman, M. (Researcher) & Högler, W. (PI)
17.08.2021 → 31.12.2030
Project: Clinical studies › Clinical Study (Industry project)
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New clinical phenotypes associated with ALPL mutations
Farman, M. (Speaker), Rehder, C. (Speaker), Rockman-Greenberg, C. (Speaker), Malli, T. (Speaker), Dahir, K. (Speaker), Linglart, A. (Speaker), Ozono, K. (Speaker), Seefried, L. (Speaker), del Angel, G. (Speaker), Högler, F. (Speaker), Montero-Lopez, R. (Speaker), Barbazza, F. (Speaker), Burner Nading, E. (Speaker), Huggins, E. (Speaker), Rush, E. (Speaker), Tauer, J. (Speaker), Kishnani, P. (Speaker), Webersinke, G. (Speaker) & Högler, W. (Speaker)
18 Nov 2024Activity: Talk or presentation › Poster presentation › science-to-science
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New clinical phenotypes associated with ALPL mutations
Farman, M. (Speaker), Rehder, C. (Speaker), Malli, T. (Speaker), Rockman-Greenberg, C. (Speaker), Dahir, K. (Speaker), Martos-Moreno, G. Á. (Speaker), Linglart, A. (Speaker), Ozono, K. (Speaker), Seefried, L. (Speaker), del Angel, G. (Speaker), Högler, F. (Speaker), Montero-Lopez, R. (Speaker), Barbazza, F. (Speaker), Burner Nading, E. (Speaker), Rush, E. (Speaker), Muhammad, K. J. (Speaker), Tauer, J. (Speaker), Kishnani, P. (Speaker), Webersinke, G. (Speaker) & Högler, W. (Speaker)
16 Nov 2024Activity: Talk or presentation › Poster presentation › science-to-science
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First Results of the Global ALPL Gene Variant Classification Project
Farman, M. (Speaker)
19 Sept 2023Activity: Talk or presentation › Contributed talk › science-to-science
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Functional testing of variants of uncertain significance in the ALPL gene
Webersinke, G. (Speaker), Farman, M. (Speaker), El-Gazzar, A. (Speaker), Kishnani, P. (Speaker), Rehder, C. (Speaker), Rockman-Greenberg, C. (Speaker), Dahir, K. (Speaker), Martos-Moreno, G. Á. (Speaker), Linglart, A. (Speaker), Ozono, K. (Speaker), Malli, T. (Speaker) & Högler, W. (Speaker)
05 Jul 2022Activity: Talk or presentation › Poster presentation › science-to-science
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The Global Hypophosphatasia Gene Variant Database: Dedicated to Deciphering Variants
Farman, M. (Speaker), El-Gazzar, A. (Speaker), Kishnani, P. (Speaker), Rockman-Greenberg, C. (Speaker), Dahir, K. (Speaker), Martos-Moreno, G. Á. (Speaker), Linglart, A. (Speaker), Ozono, K. (Speaker), Seefried, L. (Speaker), del Angel, G. (Speaker), Webersinke, G. (Speaker), Malli, T. (Speaker), Rush, E. (Speaker) & Högler, W. (Speaker)
05 Jul 2022Activity: Talk or presentation › Poster presentation › science-to-science