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American Journal of Medical Genetics. Part A
|
June 9, 2012
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
Anne Gregor, Mandy Krumbiegel, Cornelia Kraus, et al.
European Journal of Medical Genetics
|
February 6, 2023
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
Katalin Lml Blum, Mandy Krumbiegel, Cornelia Kraus, et al.
BMC Bioinformatics
|
September 23, 2010
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies
Steffen Uebe, Francesca Pasutto, Mandy Krumbiegel, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2020
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder
Melissa Rieger, Mandy Krumbiegel, Miriam S Reuter, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2017
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, et al.
Stem Cell Research
|
October 25, 2022
Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression
Yanni Schneider, Soeren Turan, Aron Koller, et al.
Biochemical and Biophysical Research Communications
|
June 15, 2004
Susceptibility to SARS coronavirus S protein-driven infection correlates with expression of angiotensin converting enzyme 2 and infection can be blocked by soluble receptor
Heike Hofmann, Martina Geier, Andrea Marzi, et al.
Stem Cell Research
|
July 19, 2020
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome
Tom Boerstler, Holger Wend, Mandy Krumbiegel, et al.
Clinical Genetics
|
April 11, 2024
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2
Melissa Pauly, Mandy Krumbiegel, Sandra Trumpp, et al.
HGG Advances
|
March 21, 2025
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency
Anne Gregor, Laila Distel, Arif B Ekici, et al.
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Search research articles
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Showing results (1-10 of 38) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
June 9, 2012
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
Anne Gregor, Mandy Krumbiegel, Cornelia Kraus, et al.
European Journal of Medical Genetics
|
February 6, 2023
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
Katalin Lml Blum, Mandy Krumbiegel, Cornelia Kraus, et al.
BMC Bioinformatics
|
September 23, 2010
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies
Steffen Uebe, Francesca Pasutto, Mandy Krumbiegel, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2020
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder
Melissa Rieger, Mandy Krumbiegel, Miriam S Reuter, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2017
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, et al.
Stem Cell Research
|
October 25, 2022
Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression
Yanni Schneider, Soeren Turan, Aron Koller, et al.
Biochemical and Biophysical Research Communications
|
June 15, 2004
Susceptibility to SARS coronavirus S protein-driven infection correlates with expression of angiotensin converting enzyme 2 and infection can be blocked by soluble receptor
Heike Hofmann, Martina Geier, Andrea Marzi, et al.
Stem Cell Research
|
July 19, 2020
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome
Tom Boerstler, Holger Wend, Mandy Krumbiegel, et al.
Clinical Genetics
|
April 11, 2024
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2
Melissa Pauly, Mandy Krumbiegel, Sandra Trumpp, et al.
HGG Advances
|
March 21, 2025
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency
Anne Gregor, Laila Distel, Arif B Ekici, et al.
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of 4