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American Journal of Medical Genetics. Part A|January 30, 2016
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangementMalte Spielmann, Sylvie Marx, Gotthold Barbi, et al.
European Journal of Human Genetics : EJHG|November 8, 2021
Combining callers improves the detection of copy number variants from whole-genome sequencingMarie Coutelier, Manuel Holtgrewe, Marten Jäger, et al.
Human Genetics|March 12, 2004
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndromeMaren Runte, Peter M Kroisel, Gabriele Gillessen-Kaesbach, et al.
American Journal of Medical Genetics. Part A|June 14, 2005
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndromeFatih Tufan, Kivanc Cefle, Seval Türkmen, et al.
European Journal of Human Genetics : EJHG|July 2, 2009
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbingWenke Seifert, Julia Beninde, Katrin Hoffmann, et al.
American Journal of Human Genetics|October 6, 2009
Clinical diagnostics in human genetics with semantic similarity searches in ontologiesSebastian Köhler, Marcel H Schulz, Peter Krawitz, et al.
Epilepsia Open|February 17, 2024
The importance of routine genetic testing in pediatric epilepsy surgeryLena-Luise Becker, Konstantin L Makridis, Angela T Abad-Perez, et al.
European Journal of Medical Genetics|June 8, 2020
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndromeFelix Boschann, Björn Fischer-Zirnsak, Thomas F Wienker, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
Clinical Genetics|September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal thirdHenrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
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