Human Genome Epidemiology Literature Finder
|
Records 1 - 8 (of 8 Records) |
| Query Trace: Syndrome and SMS[original query] |
|---|
| Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clinical genetics 2007 Jun 71 (6): 540-50. Edelman E A, Girirajan S, Finucane B, Patel P I, Lupski J R, Smith A C M, Elsea S |
| Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry. Clinica chimica acta; international journal of clinical chemistry 2011 1 412 (7-8): 655-60. Sowell John, Norris Joy, Jones Kelly, Schwartz Charles, Wood T |
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
| Predictors of Neurocognitive Syndromes in Combat Veterans. Cur?us 2015 Jul 7 (7): e293. Roy Michael J, Costanzo Michelle, Gill Jessica, Leaman Suzanne, Law Wendy, Ndiongue Rochelle, Taylor Patricia, Kim Hyung-Suk, Bieler Gayle S, Garge Nikhil, Rapp Paul E, Keyser David, Nathan Dominic, Xydakis Michael, Pham Dzung, Wassermann Er |
| TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. The Journal of allergy and clinical immunology 2015 Jun . Romberg Neil, Virdee Manmeet, Chamberlain Nicolas, Oe Tyler, Schickel Jean-Nicolas, Perkins Tiffany, Cantaert Tineke, Rachid Rima, Rosengren Sally, Palazzo Regina, Geha Raif, Cunningham-Rundles Charlotte, Meffre Er |
| Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. Scientific reports 2016 6 19010. Chen Li, Tao Yu, Song Fan, Yuan Xi, Wang Jian, Saffen Dav |
| Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature. American journal of medical genetics. Part A 2021 4 185 (7): 2003-2011. Onesimo Roberta, Versacci Paolo, Delogu Angelica Bibiana, De Rosa Gabriella, Pugnaloni Flaminia, Blandino Rita, Leoni Chiara, Calcagni Giulio, Digilio Maria C, Zollino Marcella, Marino Bruno, Zampino Giusep |
| Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS). Journal of communication disorders 2024 8 111 106455. Christine Brennan, Rachael R Baid |
- Page last reviewed:Feb 1, 2024
- Content source: