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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2021 | 2 |
2024 | 0 |
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Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1.
Nat Commun. 2021.
PMID: 34021162
Free PMC article.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.
Parenti I, et al.
Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24.
Hum Genet. 2017.
PMID: 28120103
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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller K, Yigit G, Martínez Grijalva C, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A.
Khuller K, et al.
Eur J Med Genet. 2021 Oct;64(10):104310. doi: 10.1016/j.ejmg.2021.104310. Epub 2021 Aug 13.
Eur J Med Genet. 2021.
PMID: 34400370
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