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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
December 4, 2024
Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen"
Anne Gregor
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 10, 2024
Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems
Anne Gregor, Christiane Zweier
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.
American Journal of Medical Genetics. Part A
|
June 26, 2015
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families
Maha S Zaki, Amira Masri, Anne Gregor, et al.
Scientific Reports
|
November 5, 2020
Loss of PHF6 leads to aberrant development of human neuron-like cells
Anna Fliedner, Anne Gregor, Fulvia Ferrazzi, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2025
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome
Dominique Braun, Anne Gregor, Monika Haubitz, et al.
Human Molecular Genetics
|
January 24, 2025
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy
Franziska Langhammer, Anne Gregor, Niels R Ntamati, 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.
Scientific Reports
|
January 29, 2020
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
Jonas Straub, Anne Gregor, Tatjana Sauerer, et al.
Human Mutation
|
September 17, 2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila
Anne Gregor, Jamie M Kramer, Monique van der Voet, et al.
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Search research articles
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Showing results (1-10 of 35) with videos related to
Sort By:
Page
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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
December 4, 2024
Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen"
Anne Gregor
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 10, 2024
Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems
Anne Gregor, Christiane Zweier
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.
American Journal of Medical Genetics. Part A
|
June 26, 2015
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families
Maha S Zaki, Amira Masri, Anne Gregor, et al.
Scientific Reports
|
November 5, 2020
Loss of PHF6 leads to aberrant development of human neuron-like cells
Anna Fliedner, Anne Gregor, Fulvia Ferrazzi, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2025
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome
Dominique Braun, Anne Gregor, Monika Haubitz, et al.
Human Molecular Genetics
|
January 24, 2025
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy
Franziska Langhammer, Anne Gregor, Niels R Ntamati, 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.
Scientific Reports
|
January 29, 2020
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
Jonas Straub, Anne Gregor, Tatjana Sauerer, et al.
Human Mutation
|
September 17, 2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila
Anne Gregor, Jamie M Kramer, Monique van der Voet, et al.
Page
of 4