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Clinical Case Reports|May 5, 2017
Dravet syndrome: a new causative SCN1A mutation?Martin Poryo, Oriana Clasen, Barbara Oehl-Jaschkowitz, et al.
American Journal of Medical Genetics. Part A|August 3, 2018
Behavioral and psychological features in girls and women with triple-X syndromePetra Freilinger, David Kliegel, Susann Hänig, et al.
Acta Neuropathologica|December 14, 2006
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndromeRudi Beschorner, Manfred Wehrmann, Ulrike Ernemann, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, et al.
Wiener Medizinische Wochenschrift (1946)|June 11, 2015
Congenital CLN disease in two siblingsSascha Meyer, Umut Yilmaz, Yoo-Jin Kim, et al.
American Journal of Medical Genetics. Part A|September 21, 2011
Christianson syndrome in a patient with an interstitial Xq26.3 deletionAndreas Tzschach, Reinhard Ullmann, Alischo Ahmed, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated familiesNaeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disabilityBarbara Oehl-Jaschkowitz, Olivier M Vanakker, Anne De Paepe, et al.
Neurogenetics|October 2, 2007
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain diseaseUte Hehr, Goekhan Uyanik, Claudia Gross, et al.
The Journal of Pediatrics|June 12, 2012
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell featuresSabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, et al.
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