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Teresa Neuhann

Showing results (1-10 of 23) with videos related to

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Klinische Monatsblatter Fur Augenheilkunde|May 19, 2025
[Congenital lens malformations]Teresa Neuhann, Lukas Neuhann
Expert Review of Neurotherapeutics|April 3, 2013
Genetic and phenotypic variability of optic neuropathiesTeresa Neuhann, Bernd Rautenstrauss
International Journal of Molecular Sciences|October 29, 2025
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesLukas Neuhann, Andreas Laner, Elke Holinski-Feder, et al.
European Journal of Medical Genetics|March 21, 2009
1.6Mb deletion in chromosome band 3q29 associated with eye abnormalitiesNataliya Tyshchenko, Karl Hackmann, Eva-Maria Gerlach, et al.
Journal of Clinical Medicine|January 21, 2022
Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number VariationsThomas Harasim, Teresa Neuhann, Anne Behnecke, et al.
Human Genetics|May 14, 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndromeLama AlAbdi, Teresa Neuhann, Eva-Christina Prott, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patientsJan Henkel, Andreas Laner, Melanie Locher, et al.
Genes|March 28, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodHayk Barseghyan, Doris Eisenreich, Evgenia Lindt, et al.
Plos One|July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variantsNicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
Frontiers in Neurology|September 11, 2024
LZTR1 loss-of-function variants associated with café au lait macules with or without frecklingSvea Horn, Teresa Neuhann, Corina Hennig, et al.
Pageof 3

Showing results (1-10 of 23) with videos related to

Sort By:
Pageof 3
Klinische Monatsblatter Fur Augenheilkunde|May 19, 2025
[Congenital lens malformations]Teresa Neuhann, Lukas Neuhann
Expert Review of Neurotherapeutics|April 3, 2013
Genetic and phenotypic variability of optic neuropathiesTeresa Neuhann, Bernd Rautenstrauss
International Journal of Molecular Sciences|October 29, 2025
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesLukas Neuhann, Andreas Laner, Elke Holinski-Feder, et al.
European Journal of Medical Genetics|March 21, 2009
1.6Mb deletion in chromosome band 3q29 associated with eye abnormalitiesNataliya Tyshchenko, Karl Hackmann, Eva-Maria Gerlach, et al.
Journal of Clinical Medicine|January 21, 2022
Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number VariationsThomas Harasim, Teresa Neuhann, Anne Behnecke, et al.
Human Genetics|May 14, 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndromeLama AlAbdi, Teresa Neuhann, Eva-Christina Prott, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patientsJan Henkel, Andreas Laner, Melanie Locher, et al.
Genes|March 28, 2024
Optical Genome Mapping as a Potential Routine Clinical Diagnostic MethodHayk Barseghyan, Doris Eisenreich, Evgenia Lindt, et al.
Plos One|July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variantsNicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
Frontiers in Neurology|September 11, 2024
LZTR1 loss-of-function variants associated with café au lait macules with or without frecklingSvea Horn, Teresa Neuhann, Corina Hennig, et al.
Pageof 3