1. Adelaide Research & Scholarship

Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 51-60 of 142 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2010LPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhoodMichot, C.; Hubert, L.; Brivet, M.; De Meirleir, L.; Valayannopoulos, V.; Muller-Felber, W.; Venkateswaran, R.; Ogier, H.; Desguerre, I.; Altuzarra, C.; Thompson, E.; Smitka, M.; Huebner, A.; Husson, M.; Horvath, R.; Chinnery, P.; Vaz, F.; Munnich, A.; Elpeleg, O.; Delahodde, A.; et al.
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, 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.
2006Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentStadler, S.; Polanetz, R.; Maier, E.; Heidenreich, S.; Niederer, B.; Mayerhofer, P.; Lagler, F.; Koch, H.; Santer, R.; Fletcher, J.; Ranieri, E.; Das, A.; Spiekerkotter, U.; Schwab, K.; Potzsch, S.; Marquardt, I.; Hennermann, J.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; et al.
2010Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationLugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.; Oudakker, A.; Kjaergaard, S.; Vianna-Morgante, A.; Kleefstra, T.; Ruiter, M.; Jehee, F.; Ullmann, R.; Schwartz, C.; Stratton, M.; Raymond, F.; Veltman, J.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.; Hehir-Kwa, J.; Froyen, G.; et al.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
2007Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortiumde Brouwer, A.; Yntema, H.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.; de Vries, B.; van Bokhoven, H.; Van Esch, H.; Frints, S.; Froyen, G.; Fryns, J.; Raynaud, M.; Moizard, M.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; et al.
2015Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disabilityGrozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2011Chlamydia antibody testing and diagnosing tubal pathology in subfertile women: an individual patient data meta-analysisBroeze, K.; Opmeer, B.; Coppus, S.; Van Geloven, N.; Alves, M.; Anestad, G.; Bhattacharya, S.; Allan, J.; Guerra-Infante, M.; Den Hartog, J.; Land, J.; Idahl, A.; van der Linden, P.; Mouton, J.; Ng, E.; van der Steeg, J.; Steures, P.; Svenstrup, H.; Tiitinen, A.; Toye, B.; et al.

Discover