Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome

Neuhaus C., Eisenberger T., Decker C., Nagl S., Blank C., Pfister M., Kennerknecht I., Müller-Hofstede C., Charbel Issa P., Heller R., Beck B., Rüther K., Mitter D., Rohrschneider K., Steinhauer U., Korbmacher H., Huhle D., Elsayed S., Taha H., Baig S., Stöhr H., Preising M., Markus S., Moeller F., Lorenz B., Nagel-Wolfrum K., Khan A., Bolz H. (2017)

In: ((Bitte Journal prüfen)), 5(5), 531-552. doi:10.1002/mgg3.312

Research article (journal) | Peer reviewed | Published

Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry.

Dinkelacker V, Grüter M, Klaver P, Grüter T, Specht K, Weis S, Kennerknecht I, Elger CE, Fernandez G (2011)

In: Journal of Neurology, 258(5), 770-782. doi:10.1007/s00415-010-5828-5

Research article (journal) | Published

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII.

Mayer K, Kennerknecht I, Steinmann B (2010)

In: European Journal of Human Genetics, 18(9). doi:10.1038/ejhg.2009.227

Research article (journal) | Published

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

In: , -.

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

In: , -.

Publications

Operated by

Top-Links

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome Neuhaus C., Eisenberger T., Decker C., Nagl S., Blank C., Pfister M., Kennerknecht I., Müller-Hofstede C., Charbel Issa P., Heller R., Beck B., Rüther K., Mitter D., Rohrschneider K., Steinhauer U., Korbmacher H., Huhle D., Elsayed S., Taha H., Baig S., Stöhr H., Preising M., Markus S., Moeller F., Lorenz B., Nagel-Wolfrum K., Khan A., Bolz H. (2017) In: ((Bitte Journal prüfen)), 5(5), 531-552. doi:10.1002/mgg3.312 Research article (journal) \| Peer reviewed \| Published
Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome). Ruggieri M, Roggini M, Kennerknecht I, Polizzi A, Distefano A, Pavone V (2011) In: Acta Pædiatrica, 100(1), 121-127. doi:10.1111/j.1651-2227.2010.01970.x Research article (journal) \| Published
Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry. Dinkelacker V, Grüter M, Klaver P, Grüter T, Specht K, Weis S, Kennerknecht I, Elger CE, Fernandez G (2011) In: Journal of Neurology, 258(5), 770-782. doi:10.1007/s00415-010-5828-5 Research article (journal) \| Published
Unexpected island effects at an extreme: reduced y chromosome and mitochondrial DNA diversity in nias. van Oven M, Hämmerle JM, van Schoor M, Kushnick G, Pennekamp P, Zega I, Lao O, Brown L, Kennerknecht I, Kayser M (2011) In: Molecular Biology and Evolution, 28(4), 1349-1361. Research article (journal) \| Published
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII. Mayer K, Kennerknecht I, Steinmann B (2010) In: European Journal of Human Genetics, 18(9). doi:10.1038/ejhg.2009.227 Research article (journal) \| Published
Sorting chromosomes as a software-based exercise. In: .
Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases. In: , -.
The early time course of compensatory face processing in congenital prosopagnosia. In: .
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. In: , -.
Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans. In: , -.