Výsledky vyhledávání - "Duyvenvoorde, H.A. van"

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

Autor: Lauffer, P., Boudin, E., Kaay, D.C.M. van der, Koene, S., Haeringen, A. van, Tellingen, V. van, Hul, W. van, Prickett, T.C.R., Mortier, G., Espiner, E.A., Duyvenvoorde, H.A. van

Publikováno v: Journal of the Endocrine Society
Journal of the Endocrine Society, 6(4):bvac019. Endocrine Society
Journal of the Endocrine Society, 6(4). ENDOCRINE SOC

Context Natriuretic peptide receptor-C (NPR-C, encoded by NPR3) belongs to a family of cell membrane–integral proteins implicated in various physiological processes, including longitudinal bone growth. NPR-C acts as a clearance receptor of natriure

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a3c39cd89a2a4105d9aacdfc4fbe0f4
https://lirias.kuleuven.be/handle/20.500.12942/696061

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Preparing n-of-1 antisense oligonucleotide treatments for rare neurological diseases in Europe

Autor: Synofzik, M., Roon-Mom, W.M.C. van, Marckmann, G., Duyvenvoorde, H.A. van, Graessner, H., Schule, R., Aartsma-Rus, A., 1M1M Consortium

Publikováno v: Nucleic Acid Therapeutics
Nucleic acid therapeutics 32(2), 83-94 (2022). doi:10.1089/nat.2021.0039
Nucleic Acid Therapeutics, 32(2), 83-94. MARY ANN LIEBERT, INC

Antisense oligonucleotide (ASO) therapies present a promising disease-modifying treatment approach for rare neurological diseases (RNDs). However, the current focus is on "more common" RNDs, leaving a large share of RND patients still without prospec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94536ca46286449fdcf4758017475c02
https://doi.org/10.1089/nat.2021.0039

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Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences

Autor: Domene, H.M., Hwa, V., Argente, J., Wit, J.M., Camacho-Hubner, C., Jasper, H.G., Pozo, J., Duyvenvoorde, H.A. van, Yakar, S., Fofanova-Gambetti, O.V., Rosenfeld, R.G., Hermus, A.R.M.M., Twickler, T.B., Kempers, M.J.E.

Publikováno v: Hormone Research, 72, 129-41
Hormone Research, 72, 3, pp. 129-41

Contains fulltext : 80437.pdf (Publisher’s version ) (Closed access) The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e2b9430173112cd1a77b0f28958817a
https://hdl.handle.net/2066/80437

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Genetic causes of growth disorders

Autor: Duyvenvoorde, H.A. van

Publikováno v: None

Growth in humans, primarily longitudinal growth, is a complex process which starts at conception and proceeds through various developmental stages, mainly controlled by genetic factors and to a lesser degree by environmental, psychosocial and nutriti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8cc32370886ef31aa67cb829b9207bef
http://hdl.handle.net/1887/21013

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