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Katja Eggermann

Showing results (1-10 of 37) with videos related to

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Trends in Genetics : TIG|March 11, 2008
Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndromeThomas Eggermann, Katja Eggermann, Nadine Schönherr
Journal of Neurology|August 10, 2022
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39Sebastian Viertauer, Ingo Kurth, Katja Eggermann, et al.
Journal of Medical Genetics|April 3, 2007
Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikelyThomas Eggermann, Nadine Schönherr, Katja Eggermann, et al.
European Journal of Pediatrics|May 25, 2002
Uniparental disomy: clinical indications for testing in growth retardationThomas Eggermann, Klaus Zerres, Katja Eggermann, et al.
Neuromuscular Disorders : NMD|December 25, 2007
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approachesThomas Eggermann, Katja Eggermann, Miriam Elbracht, et al.
Deutsches Arzteblatt International|February 27, 2018
Hereditary NeuropathiesKatja Eggermann, Burkhard Gess, Martin Häusler, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literatureKatja Eggermann, Carsten Bergmann, Inge Heil, et al.
Genetic Testing|March 1, 2008
Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndromeKatja Eggermann, Nadine Schönherr, Michael B Ranke, et al.
Neuromuscular Disorders : NMD|January 23, 2016
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1Sabine Rudnik-Schöneborn, Nina Barisić, Katja Eggermann, et al.
Genetic Testing|December 4, 2003
Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25Sebastian Prager, Hartmut A Wollmann, Susanne Mergenthaler, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Trends in Genetics : TIG|March 11, 2008
Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndromeThomas Eggermann, Katja Eggermann, Nadine Schönherr
Journal of Neurology|August 10, 2022
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39Sebastian Viertauer, Ingo Kurth, Katja Eggermann, et al.
Journal of Medical Genetics|April 3, 2007
Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikelyThomas Eggermann, Nadine Schönherr, Katja Eggermann, et al.
European Journal of Pediatrics|May 25, 2002
Uniparental disomy: clinical indications for testing in growth retardationThomas Eggermann, Klaus Zerres, Katja Eggermann, et al.
Neuromuscular Disorders : NMD|December 25, 2007
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approachesThomas Eggermann, Katja Eggermann, Miriam Elbracht, et al.
Deutsches Arzteblatt International|February 27, 2018
Hereditary NeuropathiesKatja Eggermann, Burkhard Gess, Martin Häusler, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literatureKatja Eggermann, Carsten Bergmann, Inge Heil, et al.
Genetic Testing|March 1, 2008
Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndromeKatja Eggermann, Nadine Schönherr, Michael B Ranke, et al.
Neuromuscular Disorders : NMD|January 23, 2016
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1Sabine Rudnik-Schöneborn, Nina Barisić, Katja Eggermann, et al.
Genetic Testing|December 4, 2003
Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25Sebastian Prager, Hartmut A Wollmann, Susanne Mergenthaler, et al.
Pageof 4