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The Journal of Clinical Endocrinology and Metabolism
|
May 19, 2020
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, et al.
American Journal of Medical Genetics. Part A
|
August 3, 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype
Isabel Spier, Hartmut Engels, Sonja Stutte, et al.
Journal of Medical Genetics
|
July 31, 2012
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
Matthias Begemann, Sabrina Spengler, Magdalena Gogiel, et al.
Journal of Perinatal Medicine
|
July 29, 2017
NLRP genes and their role in preeclampsia and multi-locus imprinting disorders
Lukas Soellner, Kathrin Maria Kopp, Sabine Mütze, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10
Thomas Eggermann, Matthias Begemann, Magdalena Gogiel, et al.
Leukemia Research
|
May 19, 2021
Successful allogeneic stem cell transplantation of a patient with Werner syndrome and acute myeloid leukemia
Eva Fiegle, Martina Crysandt, Anne-Sophie Bouillon, et al.
Trends in Molecular Medicine
|
September 29, 2014
CDKN1C mutations: two sides of the same coin
Thomas Eggermann, Gerhard Binder, Frédéric Brioude, et al.
Molecular Cytogenetics
|
August 4, 2017
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction
Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 26, 2020
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
Thomas Eggermann, Johanna Brück, Cordula Knopp, et al.
Molecular Genetics & Genomic Medicine
|
November 28, 2017
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, et al.
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Search research articles
Search
Showing results (41-50 of 97) with videos related to
Sort By:
Page
of 10
The Journal of Clinical Endocrinology and Metabolism
|
May 19, 2020
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, et al.
American Journal of Medical Genetics. Part A
|
August 3, 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype
Isabel Spier, Hartmut Engels, Sonja Stutte, et al.
Journal of Medical Genetics
|
July 31, 2012
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
Matthias Begemann, Sabrina Spengler, Magdalena Gogiel, et al.
Journal of Perinatal Medicine
|
July 29, 2017
NLRP genes and their role in preeclampsia and multi-locus imprinting disorders
Lukas Soellner, Kathrin Maria Kopp, Sabine Mütze, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10
Thomas Eggermann, Matthias Begemann, Magdalena Gogiel, et al.
Leukemia Research
|
May 19, 2021
Successful allogeneic stem cell transplantation of a patient with Werner syndrome and acute myeloid leukemia
Eva Fiegle, Martina Crysandt, Anne-Sophie Bouillon, et al.
Trends in Molecular Medicine
|
September 29, 2014
CDKN1C mutations: two sides of the same coin
Thomas Eggermann, Gerhard Binder, Frédéric Brioude, et al.
Molecular Cytogenetics
|
August 4, 2017
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction
Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 26, 2020
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
Thomas Eggermann, Johanna Brück, Cordula Knopp, et al.
Molecular Genetics & Genomic Medicine
|
November 28, 2017
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, et al.
Page
of 10