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1دورية أكاديمية
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 -
2دورية أكاديمية
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 -
3دورية أكاديمية
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
المصدر: Savarirayan , R , Ireland , P , Irving , M , Thompson , D , Alves , I , Baratela , W A R , Betts , J , Bober , M B , Boero , S , Briddell , J , Campbell , J , Campeau , P M , Carl-Innig , P , Cheung , M S , Cobourne , M , Cormier-Daire , V , Deladure-Molla , M , del Pino , M , Elphick , H , Fano , V , Fauroux , B , Gibbins , J , Groves , M L , ....
الإتاحة: https://doi.org/10.1038/s41574-021-00595-xTest
https://kclpure.kcl.ac.uk/portal/en/publications/9fcc2451-539c-4143-a2ec-bf974df41819Test
http://www.scopus.com/inward/record.url?scp=85119961871&partnerID=8YFLogxKTest -
4دورية أكاديمية
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
المصدر: Savarirayan , R , Ireland , P , Irving , M , Thompson , D , Alves , I , Baratela , W A R , Betts , J , Bober , M B , Boero , S , Briddell , J , Campbell , J , Campeau , P M , Carl-Innig , P , Cheung , M S , Cobourne , M , Cormier-Daire , V , Deladure-Molla , M , del Pino , M , Elphick , H , Fano , V , Fauroux , B , Gibbins , J , Groves , M L , ....
الإتاحة: https://doi.org/10.1038/s41574-021-00595-xTest
https://kclpure.kcl.ac.uk/portal/en/publications/international-consensus-statement-on-the-diagnosis-multidisciplinary-management-and-lifelong-care-of-individuals-with-achondroplasiaTest(9fcc2451-539c-4143-a2ec-bf974df41819).html
http://www.scopus.com/inward/record.url?scp=85119961871&partnerID=8YFLogxKTest -
5دورية أكاديمية
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 -
6دورية أكاديمية
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 -
7دورية أكاديمية
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
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8رسالة جامعية
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; Paper II. Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, et al. High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet journal of rare diseases. 2020;15(1):123. DOI:10.1186/s13023-020-01397-6. (Erratum: Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet journal of rare diseases. 2020;15(1):342. DOI:10.1186/s13023-020-01636-w) The article is included in the thesis. Also available at: https://doi.org/10.1186/s13023-020-01397-6Test; Paper III. Fredwall SO, Øverland B, Berdal H, Berg S, Weedon-Fekjær H, Lidal IB, et al. Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study. Orphanet journal of rare diseases. 2021;16(1):156. DOI:10.1186/s13023-021-01792-7. The article is included in the thesis. Also available at: https://doi.org/10.1186/s13023-021-01792-7Test; Paper IV. Fredwall SO, Linge J, Leinhard OD, Kjonigsen L, Eggesbo HB, Weedon-Fekjaer H, et al. Cardiovascular risk factors and body composition in adults with achondroplasia. Genet Med. 2021;23(4):732-9. DOI:10.1038/s41436-020-01024-6. The article is included in the thesis. Also available at: https://doi.org/10.1038/s41436-020-01024-6Test; https://doi.org/10.1111/cge.13542Test; https://doi.org/10.1186/s13023-020-01397-6Test; https://doi.org/10.1186/s13023-021-01792-7Test; https://doi.org/10.1038/s41436-020-01024-6Test; http://urn.nb.no/URN:NBN:no-95472Test; http://hdl.handle.net/10852/92900Test; URN:NBN:no-95472; Fulltext https://www.duo.uio.no/bitstream/handle/10852/92900/1/PhDTest-Fredwall-2022.pdf