Showing results (11-20 of 23) with videos related to
Sort By:
Pageof 3
Clinical Dysmorphology|March 15, 2006
Pitt-Hopkins syndrome in two patients and further definition of the phenotypeMaarit M Peippo, Kalle O J Simola, Leena K Valanne, et al.Cancer Research|July 5, 2002
A novel low-penetrance locus for familial glioma at 15q23-q26.3Niina Paunu, Päivi Lahermo, Päivi Onkamo, et al.Neuroimage|August 17, 2001
Memory traces for words as revealed by the mismatch negativityF Pulvermüller, T Kujala, Y Shtyrov, et al.Pediatrics|March 5, 2002
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown causeKatariina Hannula, Marita Lipsanen-Nyman, Paula Kristo, et al.International Journal of Cancer|February 22, 2002
Cancer incidence in families with multiple glioma patientsNiina Paunu, Eero Pukkala, Pekka Laippala, et al.American Journal of Human Genetics|May 10, 2011
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyAlexandra Götz, Henna Tyynismaa, Liliya Euro, et al.Epilepsy Research|November 17, 2009
Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17qAuli Sirén, Anne Polvi, Lyne Chahine, et al.Journal of Inherited Metabolic Disease|November 1, 2002
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesW J Kleijer, V H Garritsen, M Linnebank, et al.Human Mutation|August 10, 2005
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotypeElke M Botzenhart, Andrew Green, Helena Ilyina, et al.Molecular Syndromology|June 27, 2013
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb OvergrowthN Revencu, L M Boon, A Dompmartin, et al.Pageof 3