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American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.
Human Genomics|April 26, 2025
Functional analyses of splice site variants in TCF12Angela Borst, Tilmann Schweitzer, Denise Horn, et al.
American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhoodDenise Horn, Bernhard Weschke, Ellen Knierim, et al.
European Journal of Medical Genetics|June 23, 2015
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategiesRicarda Flöttmann, Alexej Knaus, Tomasz Zemojtel, et al.
American Journal of Medical Genetics. Part A|December 23, 2017
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophiesNaseebullah Kakar, Denise Horn, Eva Decker, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3Denise Horn, Holger Tönnies, Heidemarie Neitzel, et al.
Cytogenetic and Genome Research|June 17, 2019
Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging FindingsMurat Torgutalp, Ceren D Durmaz, Halil G Karabulut, et al.
Gene|November 6, 2012
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletionGerda Neubert, Katja von Au, Katrin Drossel, et al.
European Journal of Pediatrics|December 11, 2008
Neonatal manifestation of multiple sulfatase deficiencyAndreas Busche, Julia B Hennermann, Friederike Bürger, et al.
Journal of Medical Internet Research|March 13, 2024
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy StudyAlisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, et al.
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