نتائج البحث - Robinson, David O.

Medical genetics: advances in brief حسب Robinson, David O

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Medical genetics: advances in brief: Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndr... حسب Robinson, David O

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Medical genetics: advances in brief حسب Robinson, David O

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Medical genetics: advances in brief حسب Robinson, David O

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Medical genetics: advances in brief: Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing حسب Robinson, David O

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Medical genetics: advances in brief: Positional cloning of the gene associated with X-linked juvenile retinoschisis حسب Robinson, David O

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Medical genetics: advances in brief: Mutations in GLUT2, the gene for the liver type glucose transporter, in patients with Fanconi-Bickel syndrome حسب Robinson, David O

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Medical genetics: advances in brief: An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia حسب Robinson, David O

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Medical genetics: advances in brief: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy حسب Robinson, David O

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Medical genetics: advances in brief: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy حسب Robinson, David O

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Medical genetics: advances in brief: Role of the region 3' to Xist exon 6 in the counting process of X-chromosome inactivation حسب Robinson, David O

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A Novel X-Linked Dominant Condition: X-Linked Congenital Isolated Ptosis حسب McMullan, Tristan F. W., Collins, Andrew R., Tyers, Anthony G., Robinson, David O.

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Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers حسب Copson, Ellen R, White, Helen E, Blaydes, Jeremy P, Robinson, David O, Johnson, Peter W, Eccles, Diana M

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Next Generation Diagnostics in Inherited Arrhythmia Syndromes: A Comparison of Two Approaches حسب Ware, James S., John, Shibu, Roberts, Angharad M., Buchan, Rachel, Gong, Sungsam, Peters, Nicholas S., Robinson, David O., Lucassen, Anneke, Behr, Elijah R., Cook, Stuart A.

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Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations حسب Tapper, William J., Foulds, Nicola, Cross, Nicholas C. P., Aranaz, Paula, Score, Joannah, Hidalgo-Curtis, Claire, Robinson, David O., Gibson, Jane, Ennis, Sarah, Temple, I. Karen, Collins, Andrew

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Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy حسب Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.

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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 حسب Sharp, Andrew J., Migliavacca, Eugenia, Dupre, Yann, Stathaki, Elisavet, Sailani, Mohammad Reza, Baumer, Alessandra, Schinzel, Albert, Mackay, Deborah J., Robinson, David O., Cobellis, Gilda, Cobellis, Luigi, Brunner, Han G., Steiner, Bernhard, Antonarakis, Stylianos E.

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Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways حسب Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.

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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome حسب Joshi, Ricky S., Garg, Paras, Zaitlen, Noah, Lappalainen, Tuuli, Watson, Corey T., Azam, Nidha, Ho, Daniel, Li, Xin, Antonarakis, Stylianos E., Brunner, Han G., Buiting, Karin, Cheung, Sau Wai, Coffee, Bradford, Eggermann, Thomas, Francis, David, Geraedts, Joep P., Gimelli, Giorgio, Jacobson, Samuel G., Le Caignec, Cedric, de Leeuw, Nicole, Liehr, Thomas, Mackay, Deborah J., Montgomery, Stephen B., Pagnamenta, Alistair T., Papenhausen, Peter, Robinson, David O., Ruivenkamp, Claudia, Schwartz, Charles, Steiner, Bernhard, Stevenson, David A., Surti, Urvashi, Wassink, Thomas, Sharp, Andrew J.

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