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Results: 1-8 |
Results: 8
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Authors: Gong, YQ Slee, RB Fukai, N Rawadi, G Roman-Roman, S Reginato, AM Wang, HW Cundy, T Glorieux, FH Lev, D Zacharin, M Oexle, K Marcelino, J Suwairi, W Heeger, S Sabatakos, G Apte, S Adkins, WN Allgrove, J Arslan-Kirchner, M Batch, JA Beighton, P Black, GCM Boles, RG Boon, LM Borrone, C Brunner, HG Carle, GF Dallapiccola, B De Paepe, A Floege, B Halfhide, ML Hall, B Hennekam, RC Hirose, T Jans, A Juppner, H Kim, CA Keppler-Noreuil, K Kohlschuetter, A LaCombe, D Lambert, M Lemyre, E Letteboer, T Peltonen, L Ramesar, RS Romanengo, M Somer, H Steichen-Gersdorf, E Steinmann, B Sullivan, B Superti-Furga, A Swoboda, W van den Boogaard, MJ Van Hul, V Vikkula, M Votruba, M Zabel, B Garcia, T Baron, R Olsen, BR Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy
Authors: Church, JA Mitchell, WG Gonzalez-Gomez, I Christensen, J Vu, TH Dimauro, S Boles, RG
Citation: Ja. Church et al., Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy, J PEDIAT, 138(5), 2001, pp. 748-751
Brain phenylalanine concentration in the management of adults with phenylketonuria
Authors: Moats, RA Koch, R Moseley, K Guldberg, P Guttler, F Boles, RG Nelson, MD
Citation: Ra. Moats et al., Brain phenylalanine concentration in the management of adults with phenylketonuria, J INH MET D, 23(1), 2000, pp. 7-14
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant?
Authors: Boles, RG
Citation: Rg. Boles, Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant?, CLIN DYSMOR, 8(1), 1999, pp. 63-65
Glucose transporter type 1 deficiency: a study of two cases with video-EEG
Authors: Boles, RG Seashore, MR Mitchell, WG Kollros, PR Mofidi, S Novotny, EJ
Citation: Rg. Boles et al., Glucose transporter type 1 deficiency: a study of two cases with video-EEG, EUR J PED, 158(12), 1999, pp. 978-983
Mitochondrial disease and cyclic vomiting syndrome
Authors: Boles, RG Williams, JC
Citation: Rg. Boles et Jc. Williams, Mitochondrial disease and cyclic vomiting syndrome, DIG DIS SCI, 44(8), 1999, pp. 103S-107S
Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis
Authors: Chen, TJ Boles, RG Wong, LJC
Citation: Tj. Chen et al., Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis, CLIN CHEM, 45(8), 1999, pp. 1162-1167
Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis
Authors: Higashimoto, T Yano, S Ito, M Clark-Sheehan, NC Cowan, L Boles, RG
Citation: T. Higashimoto et al., Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis, CLIN CHEM, 45(11), 1999, pp. 2005-2006
Risultati: 1-8 |