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Academic Journal

RFT1 deficiency in three novel CDG patients

Subjects: Zurich Center for Integrative Human Physiology (ZIHP); Institute of Physiology; 570 Life sciences

  • Source: Vleugels, W; Haeuptle, M A; Ng, B G; Michalski, J C; Battini, R; Dionisi-Vici, C; Ludman, M D; Jaeken, J; Foulquier, F; Freeze, H H; Matthijs, G; Hennet, T (2009). RFT1 deficiency in three novel CDG

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Academic Journal

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Subjects: Institute of Medical Molecular Genetics; Medical Clinic; Institute of Medical Genetics

  • Source: Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature

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Academic Journal

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Subjects: Dermatology Clinic; 610 Medicine & health; Genetics(clinical)

  • Source: Revencu, N; Boon, L M; Mulliken, J B; Enjolras, O; Cordisco, M R; Burrows, P E; Clapuyt, P; Hammer, F; Dubois, J; Baselga, E; Brancati, F; Carder, R; Quintal, J M C; Dallapiccola, B; Fischer, G;

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Academic Journal

Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD

Subjects: Department of Child and Adolescent Psychiatry; 610 Medicine & health; Genetics(clinical)

  • Source: Zhou, K; Chen, W; Buitelaar, J; Banaschewski, T; Oades, R D; Franke, B; Sonuga-Barke, E; Ebstein, R; Eisenberg, J; Gill, M; Manor, I; Miranda, A; Mulas, F; Roeyers, H; Rothenberger, A; Sergeant, J;

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Academic Journal

Trisomy 18: changes in sex ratio during intrauterine life

Subjects: Institute of Medical Genetics; Epidemiology; Biostatistics and Prevention Institute (EBPI)

  • Source: Niedrist, D; Riegel, M; Achermann, J; Rousson, V; Schinzel, A (2006). Trisomy 18: changes in sex ratio during intrauterine life. American Journal of Medical Genetics.

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Academic Journal

The adverse consequences of not using sunscreens.

  • Source: International Journal of Cosmetic Science. Oct2023 Supplement 1, Vol. 45, p11-19. 9p.

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  • 1-10 ل  68 نتائج ل ""Genetics (clinical)""