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Clinical Genetics|January 13, 2026

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype CorrelationAnastasia Maria Licata, Elke Botzenhart, Katja Kloth-Stachnau, et al.

Kidney International|September 18, 2002

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genesElke Botzenhart, Udo Vester, Christa Schmidt, et al.

Neurogenetics|December 1, 2006

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophySabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, et al.

Nature Genetics|October 4, 2011

Mutations in TRPV4 cause an inherited arthropathy of hands and feetShireen R Lamandé, Yuan Yuan, Irma L Gresshoff, et al.

Plos One|November 23, 2013

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.

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Showing results (1-10 of 5) with videos related to

Sort By:

Pageof 1

Clinical Genetics|January 13, 2026

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype CorrelationAnastasia Maria Licata, Elke Botzenhart, Katja Kloth-Stachnau, et al.

Kidney International|September 18, 2002

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genesElke Botzenhart, Udo Vester, Christa Schmidt, et al.

Neurogenetics|December 1, 2006

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophySabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, et al.

Nature Genetics|October 4, 2011

Mutations in TRPV4 cause an inherited arthropathy of hands and feetShireen R Lamandé, Yuan Yuan, Irma L Gresshoff, et al.

Plos One|November 23, 2013

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.

Pageof 1