Publications by authors named "Dagmar Huhle"

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H Döring, Stephany H Donze, Dagmar Huhle

Eur J Hum Genet· March 2022

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Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
Carolina Sismani, Stamatia-Maria Rapti, Pavlina Iliopoulou, Anastasia Spring, Rozalia Neroutsou, Dagmar Huhle

J Hum Genet· September 2020

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Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.
Frauke Hornemann, Diana Le Duc, Christian Roth, Roland Pfäffle, Dagmar Huhle

Neuropediatrics· February 2020

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Dagmar Huhle

Am J Hum Genet· May 2019

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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A Berry, Guntram Borck, Dagmar Huhle

Eur J Hum Genet· May 2018

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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Dagmar Huhle

Genet Med· January 2018

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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and mutated in Heimler syndrome.
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Dagmar Huhle

Mol Genet Genomic Med· September 2017

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Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.
Hannes Spittel, Florian Kubek, Katharina Kreskowski, Monika Ziegler, Elisabeth Klein, Dagmar Huhle

Cytogenet Genome Res· July 2014

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Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.
Ilona Dietze, Barbara Fritz, Dagmar Huhle, Wouter Simoens, Ernestine Piecha

Fetal Diagn Ther· November 2004

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