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American Journal of Medical Genetics. Part A|May 15, 2015
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?Christina Lissewski, Sarina G Kant, Zornitza Stark, et al.American Journal of Medical Genetics. Part A|February 26, 2019
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disabilityAnte Karoglan, Denny Schanze, Claudia Bär, et al.European Journal of Medical Genetics|December 11, 2012
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disabilityIna Schanze, Denny Schanze, Carlos A Bacino, et al.American Journal of Medical Genetics. Part A|March 16, 2013
Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patientsMaike Busch, Barbara Leube, Anne Thiel, et al.Anticancer Research|June 4, 2020
Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower LegReinhard E Friedrich, Christian Hagel, Felix K Kohlrusch, et al.Frontiers in Endocrinology|November 7, 2022
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinismIlse Wieland, Ina Schanze, Ina Marianti Felgendreher, et al.Human Mutation|September 17, 2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and DrosophilaAnne Gregor, Jamie M Kramer, Monique van der Voet, et al.Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.Journal of the Endocrine Society|April 27, 2022
Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic FocusHendrik Vossschulte, Konrad Mohnike, Klaus Mohnike, et al.Molecular Syndromology|March 22, 2016
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsRon Hochstenbach, Beata Nowakowska, Marianne Volleth, et al.Pageof 3