检索结果 - Robinson, David O.

Medical genetics: advances in brief 由 Robinson, David O

获取全文

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... 由 Robinson, David O

获取全文

Medical genetics: advances in brief 由 Robinson, David O

获取全文

Medical genetics: advances in brief 由 Robinson, David O

获取全文

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

获取全文

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

获取全文

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

获取全文

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

获取全文

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

获取全文

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

获取全文

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

获取全文

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

获取全文 获取全文

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

获取全文 获取全文 获取全文

Next Generation Diagnostics in Inherited Arrhythmia Syndromes: A Comparison of Two Approaches 由 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.

获取全文 获取全文 获取全文

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations 由 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

获取全文 获取全文 获取全文

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy 由 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.

获取全文 获取全文 获取全文

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 由 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.

获取全文 获取全文 获取全文

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways 由 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.

获取全文 获取全文 获取全文

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome 由 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.

获取全文 获取全文 获取全文