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Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|December 3, 2014
[Current methods in genetic analysis : an approach for genetics-based preventive medicine]Hans-Georg Klein, Imma Rost
International Journal of Pediatric Otorhinolaryngology|May 13, 2014
A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literatureCornelia Schwemmle, Imma Rost, Stephanie Spranger, et al.
American Journal of Medical Genetics. Part A|July 10, 2007
Endochondral gigantism: a newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalitiesHeinrich Schmidt, Birgit Kammer, Monika Grasser, et al.
Gene|April 10, 2013
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathySylvie Nguyen-Minh, Katrin Drossel, Denise Horn, et al.
American Journal of Medical Genetics|January 25, 2002
MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimationAstrid Golla, Imma Rost, Kerry Baldwin Jedele, et al.
European Journal of Medical Genetics|February 25, 2012
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndromeJulia Hoefele, Meike Gabert, Uwe Heinrich, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalitiesDenise Horn, Eberhard Siebert, Ulrich Seidel, et al.
Gene|March 12, 2013
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1Julia Hoefele, Christian Wilhelm, Monika Schiesser, et al.
Clinical EEG and Neuroscience|September 27, 2019
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral CenterHannes Hoelz, Christian Herdl, Lucia Gerstl, et al.
European Journal of Medical Genetics|October 12, 2010
Parental origin and functional relevance of a de novo UBE3A variantBernhard Horsthemke, Michaela Wawrzik, Stephanie Gross, et al.
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