Concepedia

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Ofir T. Betsalel, Jiddeke M. van de Kamp, Cristina Martínez-Muñoz, Efraim H. Rosenberg, Arjan P.M. de Brouwer, Petra J. W. Pouwels, Marjo S. van der Knaap, Grazia M.S. Mancini, Cornelis Jakobs, Ben C.J. Hamel,

Neurogenetics · 2008 · 32 citations · 17 references

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17

Estimation of metabolite concentrations from localized <i>in vivo</i> proton NMR spectra

Stephen W. Provencher · Magnetic Resonance in Medicine · 1993 · 3.7K citations

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

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X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven et al. · The American Journal of Human Genetics · 2001 · 397 citations · Full text

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Regional Age Dependence of Human Brain Metabolites from Infancy to Adulthood as Detected by Quantitative Localized Proton MRS

Petra J. W. Pouwels, Knut Brockmann, Bernd Kruse et al. · Pediatric Research · 1999 · 314 citations

, , +11

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2004 · 213 citations · Full text

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