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Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study.
Fetal Diagn Ther. 2017;42(4):302-310. doi: 10.1159/000460248. Epub 2017 May 17.
Fetal Diagn Ther. 2017.
PMID: 28511174
Clinical Trial.
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
Au PYB, Huang L, Broley S, Gallagher L, Creede E, Lahey D, Ordorica S, Mina K, Boycott KM, Baynam G, Dyment DA.
Au PYB, et al. Among authors: creede e.
Eur J Med Genet. 2017 Jul;60(7):359-364. doi: 10.1016/j.ejmg.2017.03.013. Epub 2017 Apr 1.
Eur J Med Genet. 2017.
PMID: 28377321
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Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome.
Grynspan D, Michaud J, Nikkel SM, Creede E, Staines WA.
Grynspan D, et al. Among authors: creede e.
Pediatr Dev Pathol. 2013 Jul-Aug;16(4):318-20. doi: 10.2350/12-09-1252-LET.1. Epub 2013 May 20.
Pediatr Dev Pathol. 2013.
PMID: 23688395
No abstract available.
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