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Items: 4

1.
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
Silvia Moncini, Maria Teresa Bonati, Ilaria Morella, Luca Ferrari, Riccardo Brambilla, Paola Riva
Eur J Hum Genet. 2015 Oct; 23(11): 1531–1537. Published online 2015 Feb 25. doi: 10.1038/ejhg.2015.20
PMCID:
PMC4613488
ArticlePDF–926K
2.
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes
Ana Justino, Patrícia Dias, Maria João Pina, Sónia Sousa, Luís Cirnes, Ana Berta Sousa, José Carlos Machado, José Luis Costa
Eur J Hum Genet. 2015 Mar; 23(3): 347–353. Published online 2014 Jun 4. doi: 10.1038/ejhg.2014.97
PMCID:
PMC4326724
ArticlePDF–1.1M
3.
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
Dennis Döcker, Max Schubach, Moritz Menzel, Christiane Spaich, Heinz-Dieter Gabriel, Martin Zenker, Deborah Bartholdi, Saskia Biskup
Eur J Hum Genet. 2015 Mar; 23(3): 409–412. Published online 2014 Jun 18. doi: 10.1038/ejhg.2014.118
PMCID:
PMC4326712
ArticlePDF–493K
4.
Importance of genetic evaluation and testing in pediatric cardiomyopathy
Muhammad Tariq, Stephanie M Ware
World J Cardiol. 2014 Nov 26; 6(11): 1156–1165. Published online 2014 Nov 26. doi: 10.4330/wjc.v6.i11.1156
PMCID:
PMC4244613
ArticlePDF–899K

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