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Thomas Eggermann

Showing results (31-40 of 269) with videos related to

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Orphanet Journal of Rare Diseases|June 25, 2010
Silver-Russell syndrome: genetic basis and molecular genetic testingThomas Eggermann, Matthias Begemann, Gerhard Binder, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism|March 15, 2011
Silver-Russell syndromeGerhard Binder, Matthias Begemann, Thomas Eggermann, et al.
Molecular Genetics and Metabolism|January 27, 2005
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skippingChrista Schmidt, Sven Lahme, Klaus Zerres, et al.
European Journal of Medical Genetics|May 18, 2019
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variationsThomas Eggermann, Matthias Begemann, Ingo Kurth, et al.
European Journal of Human Genetics : EJHG|November 22, 2020
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same familyThomas Eggermann, Gundula Kadgien, Matthias Begemann, et al.
European Journal of Medical Genetics|December 17, 2009
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndromeNadine Bachmann, Sabrina Spengler, Gerhard Binder, et al.
Molecular Genetics & Genomic Medicine|July 31, 2023
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regionsElia Schlaich, Wouter H G Hubens, Thomas Eggermann
Urologia Internationalis|October 10, 2002
Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuriaSven Lahme, Karl-Horst Bichler, Thomas Eggermann, et al.
Human Mutation|June 20, 2003
Determination of SMN1 and SMN2 copy number using TaqMan technologyDirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, et al.
Molecular and Cellular Probes|January 6, 2019
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndromeLea Neuheuser, Robert Meyer, Matthias Begemann, et al.
Pageof 27

Showing results (31-40 of 269) with videos related to

Sort By:
Pageof 27
Orphanet Journal of Rare Diseases|June 25, 2010
Silver-Russell syndrome: genetic basis and molecular genetic testingThomas Eggermann, Matthias Begemann, Gerhard Binder, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism|March 15, 2011
Silver-Russell syndromeGerhard Binder, Matthias Begemann, Thomas Eggermann, et al.
Molecular Genetics and Metabolism|January 27, 2005
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skippingChrista Schmidt, Sven Lahme, Klaus Zerres, et al.
European Journal of Medical Genetics|May 18, 2019
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variationsThomas Eggermann, Matthias Begemann, Ingo Kurth, et al.
European Journal of Human Genetics : EJHG|November 22, 2020
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same familyThomas Eggermann, Gundula Kadgien, Matthias Begemann, et al.
European Journal of Medical Genetics|December 17, 2009
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndromeNadine Bachmann, Sabrina Spengler, Gerhard Binder, et al.
Molecular Genetics & Genomic Medicine|July 31, 2023
First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regionsElia Schlaich, Wouter H G Hubens, Thomas Eggermann
Urologia Internationalis|October 10, 2002
Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuriaSven Lahme, Karl-Horst Bichler, Thomas Eggermann, et al.
Human Mutation|June 20, 2003
Determination of SMN1 and SMN2 copy number using TaqMan technologyDirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, et al.
Molecular and Cellular Probes|January 6, 2019
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndromeLea Neuheuser, Robert Meyer, Matthias Begemann, et al.
Pageof 27