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Year Number of Results
2013 42
2014 74
2015 76
2016 77
2017 102
2018 164
2019 569
2020 533
2021 291
2022 262
2023 242
2024 156

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2,264 results

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Page 1
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y, Shuai R, Liang L, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Gu X, Han L. Yu Y, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1822. doi: 10.1002/mgg3.1822. Epub 2021 Oct 20. Mol Genet Genomic Med. 2021. PMID: 34668645 Free PMC article.
Systematic review on gene-sun exposure interactions in skin cancer.
Shraim R, Farran MZ, He G, Marunica Karsaj J, Zgaga L, McManus R. Shraim R, et al. Mol Genet Genomic Med. 2023 Oct;11(10):e2259. doi: 10.1002/mgg3.2259. Epub 2023 Aug 3. Mol Genet Genomic Med. 2023. PMID: 37537768 Free PMC article. Review.
Same family, same mutation, different ECG.
Akbuğa K, Karanfil M. Akbuğa K, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2079. doi: 10.1002/mgg3.2079. Epub 2022 Oct 28. Mol Genet Genomic Med. 2023. PMID: 36305573 Free PMC article.
2,264 results