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Year | Number of Results |
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2020 | 2 |
2021 | 3 |
2023 | 1 |
2024 | 0 |
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Page 1
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
J Pers Med. 2020 Aug 27;10(3):105. doi: 10.3390/jpm10030105.
J Pers Med. 2020.
PMID: 32867104
Free PMC article.
Review.
Treatment of ARS deficiencies with specific amino acids.
Kok G, Tseng L, Schene IF, Dijsselhof ME, Salomons G, Mendes MI, Smith DEC, Wiedemann A, Canton M, Feillet F, de Koning TJ, Boothe M, Dean J, Kassel R, Ferreira EA, van den Born M, Nieuwenhuis EES, Rehmann H, Terheggen-Lagro SWJ, van Karnebeek CDM, Fuchs SA.
Kok G, et al. Among authors: boothe m.
Genet Med. 2021 Nov;23(11):2202-2207. doi: 10.1038/s41436-021-01249-z. Epub 2021 Jun 30.
Genet Med. 2021.
PMID: 34194004
Free PMC article.
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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM.
Verberne EA, et al. Among authors: boothe m.
Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20.
Genet Med. 2021.
PMID: 33077894
Free article.
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Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
Scheuerle AE, Ni M, Ahmad AA, Timmons CF, Rakheja D, Gordon EE, Boothe M.
Scheuerle AE, et al. Among authors: boothe m.
Am J Med Genet A. 2023 Sep;191(9):2324-2328. doi: 10.1002/ajmg.a.63314. Epub 2023 Jun 5.
Am J Med Genet A. 2023.
PMID: 37272762
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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S, Scala M, Nguyen TTM, Severino M, Accogli A, Amadori E, Torella A, Pinelli M, Hudson B, Boothe M, Hurst A, Ben-Omran T, Larsen MJ, Fagerberg CR, Sperling L, Miceikaite I, Herissant L, Doco-Fenzy M, Jennesson M, Nigro V, Striano P, Minetti C, Sachdev RK, Palmer EE, Capra V, Campeau PM.
Salian S, et al. Among authors: boothe m.
Clin Genet. 2021 Nov;100(5):607-614. doi: 10.1111/cge.14033. Epub 2021 Jul 29.
Clin Genet. 2021.
PMID: 34296759
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