Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|October 18, 2011
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disabilityGertrud Strobl-Wildemann, Vera M Kalscheuer, Hao Hu, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumourMagdalena Gogiel, Matthias Begemann, Sabrina Spengler, et al.
American Journal of Medical Genetics. Part A|February 19, 2015
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?Christina Evers, Diana Mitter, Gertrud Strobl-Wildemann, et al.
Gene|June 5, 2013
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndromeSonja Beicht, Gertrud Strobl-Wildemann, Sabine Rath, et al.
Molecular Genetics & Genomic Medicine|February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndromeDennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
BMJ Open|March 21, 2013
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnosticsGabriele Wildhardt, Birgit Zirn, Luitgard M Graul-Neumann, et al.
Annals of Neurology|February 26, 2005
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutationMichaela Auer-Grumbach, Beate Schlotter-Weigel, Hanns Lochmüller, et al.
Brain & Development|October 24, 2015
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugsSaskia M Herbst, Christiane R Proepper, Tobias Geis, et al.
Brain : a Journal of Neurology|October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
Pageof 2