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Results 1-9 of 9 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2012
CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesis
Pan, W.
;
Pham, V.
;
Stratman, A.
;
Castranova, D.
;
Kamei, M.
;
Kidd, K.
;
Lo, B.
;
Shaw, K.
;
Torres-Vazquez, J.
;
Mikelis, C.
;
Gutkind, J.
;
Davis, G.
;
Weinstein, B.
2012
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, S.
;
Mandelstam, S.
;
Suls, A.
;
Audenaert, D.
;
Deconinck, T.
;
Claes, L.
;
Deprez, L.
;
Smets, K.
;
Hristova, D.
;
Yordanova, I.
;
Jordanova, A.
;
Ceulemans, B.
;
Jansen, A.
;
Hasaerts, D.
;
Roelens, F.
;
Lagae, L.
;
Yendle, S.
;
Stanley, T.
;
Heron, S.
;
Mulley, J.
;
et al.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2012
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, J.
;
Huang, L.
;
Winden, K.
;
Lazaro, M.
;
Haan, E.
;
Nelson, J.
;
McGaughran, J.
;
Nguyen, L.
;
Friend, K.
;
Hackett, A.
;
Field, M.
;
Gecz, J.
;
Geschwind, D.
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Solomon, B.
;
Thompson, E.
2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, S.
;
Compton, A.
;
Hershman, S.
;
Lim, S.
;
Lieber, D.
;
Tucker, E.
;
Laskowski, A.
;
Garone, C.
;
Liu, S.
;
Jaffe, D.
;
Christodoulou, J.
;
Fletcher, J.
;
Bruno, D.
;
Goldblatt, J.
;
DiMauro, S.
;
Thorburn, D.
;
Mootha, V.
2012
Quality standards and samples in genetic testing
Ravine, D.
;
Suthers, G.
Discover
Author
4
Gecz, J.
3
Haan, E.
2
Corbett, M.
2
et al.
2
Field, M.
2
Gardner, A.
2
Hackett, A.
2
Heron, S.
2
Huang, L.
1
Afawi, Z.
.
next >
Subject
9
Humans
8
Male
5
Female
3
Animals
3
Base Sequence
3
Child, Preschool
3
Exome
3
Genetic Predisposition to Disease
3
Intellectual Disability
3
Molecular Sequence Data
.
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