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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 4
2005 3
2007 1
2008 2
2009 6
2010 4
2011 3
2012 2
2013 4
2014 2
2015 7
2016 9
2017 6
2018 3
2019 4
2020 4
2021 8
2022 4
2023 3
2024 1

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72 results

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Page 1
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A, Voraberger B, Rauch F, Mairhofer M, Schmidt K, Guillemyn B, Mitulović G, Reiterer V, Haun M, Mayr MM, Mayr JA, Kimeswenger S, Drews O, Saraff V, Shaw N, Fratzl-Zelman N, Symoens S, Farhan H, Högler W. El-Gazzar A, et al. Among authors: shaw n. EMBO Mol Med. 2023 Apr 11;15(4):e16834. doi: 10.15252/emmm.202216834. Epub 2023 Mar 14. EMBO Mol Med. 2023. PMID: 36916446 Free PMC article.
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.
Mughal MZ, Baroncelli GI, de Lucas-Collantes C, Linglart A, Magnolato A, Raimann A, Santos F, Schnabel D, Shaw N, Nilsson O. Mughal MZ, et al. Among authors: shaw n. Front Endocrinol (Lausanne). 2023 Jan 31;13:1034580. doi: 10.3389/fendo.2022.1034580. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36798486 Free PMC article. Review.
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Reilly ML, et al. Among authors: shaw n. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19. J Bone Miner Res. 2022. PMID: 35748595 Free PMC article.
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.
Thornley P, Bishop N, Baker D, Brock J, Arundel P, Burren C, Smithson S, DeVile C, Crowe B, Allgrove J, Saraff V, Shaw N, Balasubramanian M. Thornley P, et al. Among authors: shaw n. Arch Dis Child. 2022 May;107(5):486-490. doi: 10.1136/archdischild-2021-322911. Epub 2021 Nov 8. Arch Dis Child. 2022. PMID: 34750202
Zoledronic Acid vs Placebo in Pediatric Glucocorticoid-induced Osteoporosis: A Randomized, Double-blind, Phase 3 Trial.
Ward LM, Choudhury A, Alos N, Cabral DA, Rodd C, Sbrocchi AM, Taback S, Padidela R, Shaw NJ, Hosszu E, Kostik M, Alexeeva E, Thandrayen K, Shenouda N, Jaremko JL, Sunkara G, Sayyed S, Aftring RP, Munns CF. Ward LM, et al. Among authors: shaw nj. J Clin Endocrinol Metab. 2021 Nov 19;106(12):e5222-e5235. doi: 10.1210/clinem/dgab458. J Clin Endocrinol Metab. 2021. PMID: 34228102 Clinical Trial.
A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacropeptide Protein Substitutes.
Daly A, Högler W, Crabtree N, Shaw N, Evans S, Pinto A, Jackson R, Ashmore C, Rocha JC, Strauss BJ, Wilcox G, Fraser WD, Tang JCY, MacDonald A. Daly A, et al. Among authors: shaw n. Nutrients. 2021 Jun 17;13(6):2075. doi: 10.3390/nu13062075. Nutrients. 2021. PMID: 34204378 Free PMC article.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Andrews A, et al. Among authors: shaw n. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. J Clin Endocrinol Metab. 2021. PMID: 34136918 Free PMC article.
72 results