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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14.
HGG Adv. 2022.
PMID: 35599849
Free PMC article.
Cerebrovasculopathy in NF1 associated with ocular and scalp defects.
Smith M, Heran MK, Connolly MB, Heran HK, Friedman JM, Jett K, Lyons CJ, Steinbok P, Armstrong L.
Smith M, et al. Among authors: heran hk.
Am J Med Genet A. 2011 Feb;155A(2):380-5. doi: 10.1002/ajmg.a.33788. Epub 2010 Dec 22.
Am J Med Genet A. 2011.
PMID: 21271658
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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Prattichizzo C, et al.
Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
Hum Mutat. 2008.
PMID: 18546297
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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.
Del Giudice E, et al.
Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.
Orphanet J Rare Dis. 2014.
PMID: 24884629
Free PMC article.
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