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European Journal of Human Genetics : EJHG
|
December 15, 2010
Clinical utility gene card for: Silver-Russell syndrome
Thomas Eggermann, Karin Buiting, I Karen Temple
Molecular Cytogenetics
|
March 15, 2024
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?
Asmaa K Amin, Jeremias Krause, Thomas Eggermann
Annales De Genetique
|
April 2, 2003
Screening for mutations in the gene for phosphorylation kinase gamma1 in Silver-Russell syndrome patients
Miriam Mavany, Hartmut A Wollmann, Thomas Eggermann
Geburtshilfe Und Frauenheilkunde
|
November 10, 2025
Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies
Thomas Eggermann, Karl Oliver Kagan, Andreas Dufke
Genetic Testing and Molecular Biomarkers
|
May 27, 2011
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome
Sabrina Spengler, Matthias Begemann, Gerhard Binder, et al.
Trends in Molecular Medicine
|
December 31, 2014
Mosaicism and uniparental disomy in prenatal diagnosis
Thomas Eggermann, Lukas Soellner, Karin Buiting, et al.
American Journal of Medical Genetics. Part A
|
August 29, 2020
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome
Robert Meyer, Miriam Elbracht, Thomas Opladen, et al.
Scientific Reports
|
August 5, 2018
Interrupted reprogramming into induced pluripotent stem cells does not rejuvenate human mesenchymal stromal cells
Carolin Göbel, Roman Goetzke, Thomas 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 unlikely
Thomas Eggermann, Nadine Schönherr, Katja Eggermann, et al.
Congenital Anomalies
|
February 3, 2015
Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory
Toshiki Takenouchi, Midori Awazu, Thomas Eggermann, et al.
Page
of 27
Search research articles
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Showing results (21-30 of 269) with videos related to
Sort By:
Page
of 27
European Journal of Human Genetics : EJHG
|
December 15, 2010
Clinical utility gene card for: Silver-Russell syndrome
Thomas Eggermann, Karin Buiting, I Karen Temple
Molecular Cytogenetics
|
March 15, 2024
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?
Asmaa K Amin, Jeremias Krause, Thomas Eggermann
Annales De Genetique
|
April 2, 2003
Screening for mutations in the gene for phosphorylation kinase gamma1 in Silver-Russell syndrome patients
Miriam Mavany, Hartmut A Wollmann, Thomas Eggermann
Geburtshilfe Und Frauenheilkunde
|
November 10, 2025
Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies
Thomas Eggermann, Karl Oliver Kagan, Andreas Dufke
Genetic Testing and Molecular Biomarkers
|
May 27, 2011
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome
Sabrina Spengler, Matthias Begemann, Gerhard Binder, et al.
Trends in Molecular Medicine
|
December 31, 2014
Mosaicism and uniparental disomy in prenatal diagnosis
Thomas Eggermann, Lukas Soellner, Karin Buiting, et al.
American Journal of Medical Genetics. Part A
|
August 29, 2020
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome
Robert Meyer, Miriam Elbracht, Thomas Opladen, et al.
Scientific Reports
|
August 5, 2018
Interrupted reprogramming into induced pluripotent stem cells does not rejuvenate human mesenchymal stromal cells
Carolin Göbel, Roman Goetzke, Thomas 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 unlikely
Thomas Eggermann, Nadine Schönherr, Katja Eggermann, et al.
Congenital Anomalies
|
February 3, 2015
Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory
Toshiki Takenouchi, Midori Awazu, Thomas Eggermann, et al.
Page
of 27