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Items: 8


Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA.

CMAJ. 2016 Aug 9;188(11):E254-60. doi: 10.1503/cmaj.150823. Epub 2016 May 30.


Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.

Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z.

PLoS One. 2016 Feb 3;11(2):e0147824. doi: 10.1371/journal.pone.0147824. eCollection 2016.


Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L.

Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7.


Newborn, carrier, and early childhood screening recommendations for fragile X.

Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E.

Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Review.


Simpson-Golabi-Behmel Syndrome Type 1.

Golabi M, Leung A, Lopez C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Dec 19 [updated 2011 Jun 23].


[Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood].

Kiyoko S, Hitoshi O.

Nihon Rinsho. 2010 Jan;68(1):136-40. Review. Japanese.


[Continuous clinical management of patients with neurofibromatosis type 1].

Ohno K.

Nihon Rinsho. 2010 Jan;68(1):131-5. Review. Japanese.


Down's syndrome.

Roizen NJ, Patterson D.

Lancet. 2003 Apr 12;361(9365):1281-9. Review.


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