المؤلفون: Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Inês, Baratela, Wagner A R, Betts, James, Bober, Michael B, Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M, Carl-Innig, Patricia, Cheung, Moira S, Cobourne, Martyn, Cormier-Daire, Valérie, Deladure-Molla, Muriel, Del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L, Hagenäs, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert R, Offiah, Amaka, Ozono, Keiichi, Phillips, John A, Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, Fredwall, Svein Otto

مصطلحات موضوعية: Achondroplasia, Consensus, Humans, Mutation, Osteogenesis, Quality of Life, Receptor, Fibroblast Growth Factor, Type 3

العلاقة: http://hdl.handle.net/10668/19565Test; https://www.nature.com/articles/s41574-021-00595-x.pdfTest

الإتاحة: https://doi.org/10.1038/s41574-021-00595-xTest
http://hdl.handle.net/10668/19565Test
https://www.nature.com/articles/s41574-021-00595-x.pdfTest

المؤلفون: de Vries, Olga, Johansen, Heidi, Fredwall, Svein Otto

المصدر: 1552-4825.

العلاقة: http://urn.nb.no/URN:NBN:no-88225Test; de Vries, Olga Johansen, Heidi Fredwall, Svein Otto . Physical fitness and activity level in Norwegian adults with achondroplasia. American Journal of Medical Genetics. Part A. 2020, 1-10; http://hdl.handle.net/10852/85583Test; 1892160; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American Journal of Medical Genetics. Part A&rft.volume=&rft.spage=1&rft.date=2020; American Journal of Medical Genetics. Part A; 185; 1023; 1032; https://doi.org/10.1002/ajmg.a.62055Test; URN:NBN:no-88225; Fulltext https://www.duo.uio.no/bitstream/handle/10852/85583/2/Physical%2Bfitness%2Band%2Bactivity%2Blevel%2Bin%2BNorwegian%2Badults.pdfTest

الإتاحة: https://doi.org/10.1002/ajmg.a.62055Test
http://hdl.handle.net/10852/85583Test
http://urn.nb.no/URN:NBN:no-88225Test

المؤلفون: Fredwall, Svein Otto, Månum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg Beate

المصدر: 0009-9163.

العلاقة: http://urn.nb.no/URN:NBN:no-78279Test; Fredwall, Svein Otto Månum, Grethe Johansen, Heidi Snekkevik, Hildegun Savarirayan, Ravi Lidal, Ingeborg Beate . Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical Genetics. 2019, 97, 179-197; http://hdl.handle.net/10852/75193Test; 1705967; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical Genetics&rft.volume=97&rft.spage=179&rft.date=2019; Clinical Genetics; 97; 179; 197; https://doi.org/10.1111/cge.13542Test; URN:NBN:no-78279; Fulltext https://www.duo.uio.no/bitstream/handle/10852/75193/2/Current%2Bknowledge%2Bof%2Bmedical%2Bcomplications%2Bin%2Badults%2Bwith%2Bachondroplasia_%2Ba%2Bscoping%2Breview.pdfTest

الإتاحة: https://doi.org/10.1111/cge.13542Test
http://hdl.handle.net/10852/75193Test
http://urn.nb.no/URN:NBN:no-78279Test

المؤلفون: Madsen, Andrea, Fredwall, Svein Otto, Månum, Grethe, Henriksen, Christine, Slettahjell, Hanne Bjørg

المصدر: 1552-4825.

العلاقة: http://urn.nb.no/URN:NBN:no-78177Test; Madsen, Andrea Fredwall, Svein Otto Månum, Grethe Henriksen, Christine Slettahjell, Hanne Bjørg . Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia. American Journal of Medical Genetics. Part A. 2019, 179(9), 1745-1755; http://hdl.handle.net/10852/75059Test; 1729192; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American Journal of Medical Genetics. Part A&rft.volume=179&rft.spage=1745&rft.date=2019; American Journal of Medical Genetics. Part A; 179; 1745; 1755; https://doi.org/10.1002/ajmg.a.61272Test; URN:NBN:no-78177; Fulltext https://www.duo.uio.no/bitstream/handle/10852/75059/1/Madsen_et_al-2019-American_Journal_of_Medical_Genetics_Part_A.pdfTest

الإتاحة: https://doi.org/10.1002/ajmg.a.61272Test
http://hdl.handle.net/10852/75059Test
http://urn.nb.no/URN:NBN:no-78177Test

المؤلفون: Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Ines, Baratela, Wagner A.R., Betts, James, Bober, Michael B., Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M., Carl-Innig, Patricia, Cheung, Moira S., Cobourne, Martyn, Cormier-Daire, Valerie, Deladure-Molla, Muriel, del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L., Hagenas, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert, Offiah, Amaka, Ozono, Keiichi, Phillips, John A., Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, Fredwall, Svein Otto

المصدر: 1759-5029 ; Nature reviews : endocrinology

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000722813000001

الإتاحة: https://doi.org/10.1038/S41574-021-00595-XTest
https://hdl.handle.net/10067/1849010151162165141Test

المؤلفون: Fredwall, Svein Otto

العلاقة: Paper I. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical genetics. 2020;97(1):179-97. DOI: 10.1111/cge.13542. The article is included in the thesis. Also available at: https://doi.org/10.1111/cge.13542Test

الإتاحة: http://hdl.handle.net/10852/92900Test
https://www.duo.uio.no/bitstream/handle/10852/92900/1/PhDTest-Fredwall-2022.pdf

المؤلفون: Fredwall, Svein Otto, Månum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg Beate

المصدر: Fredwall, Svein Otto Månum, Grethe Johansen, Heidi Snekkevik, Hildegun Savarirayan, Ravi Lidal, Ingeborg Beate . Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical Genetics. 2019, 97, 179-197
Clinical Genetics

الإتاحة: http://hdl.handle.net/10852/75193Test
https://www.duo.uio.no/bitstream/handle/10852/75193/2/Current%2Bknowledge%2Bof%2Bmedical%2Bcomplications%2Bin%2Badults%2Bwith%2Bachondroplasia_%2Ba%2Bscoping%2Breview.pdfTest

المؤلفون: Marieke de Vries, Olga, Johansen, Heidi, Fredwall, Svein Otto

المصدر: American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1023-1032, 10p