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Year Number of Results
1983 1
1985 3
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1994 1
1997 2
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2017 3
2018 1
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2022 1
2024 0

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Page 1
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene; Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT. Whittaker DE, et al. J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587. J Clin Invest. 2021. PMID: 34730112 Free PMC article.
The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.
Whittaker DE, Riegman KL, Kasah S, Mohan C, Yu T, Pijuan-Sala B, Hebaishi H, Caruso A, Marques AC, Michetti C, Smachetti ME, Shah A, Sabbioni M, Kulhanci O, Tee WW, Reinberg D, Scattoni ML, Volk H, McGonnell I, Wardle FC, Fernandes C, Basson MA. Whittaker DE, et al. J Clin Invest. 2017 Mar 1;127(3):874-887. doi: 10.1172/JCI83408. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165338 Free PMC article.
15 results