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American Journal of Medical Genetics
|
March 14, 2002
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
Christiane Zweier, Beate Albrecht, Beate Mitulla, 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.
European Journal of Endocrinology
|
February 19, 2026
Exome Findings in Children with Short Stature Evaluated by Growth Hormone Stimulation Testing
Idoia Martinez de Lapiscina, Matthias Zürcher, Tanja Zingg, et al.
European Journal of Medical Genetics
|
December 18, 2020
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder
Katalin L M L Hetzelt, Frank Kerling, Cornelia Kraus, et al.
Journal of Medical Genetics
|
December 2, 2009
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
Ralf Rauch, Michael Hofbeck, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
Roksana Armani, Hayley Archer, Angus Clarke, et al.
Headache
|
April 15, 2026
Learnings from familial visual snow syndrome: A case series
Laura Weichsel, Nedelina Slavova, Franz Riederer, et al.
BMC Cancer
|
May 12, 2019
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability
Bernt Popp, Abbas Agaimy, Cornelia Kraus, et al.
American Journal of Human Genetics
|
September 5, 2015
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
Georgia Vasileiou, Arif B Ekici, Steffen Uebe, et al.
Page
of 17
Search research articles
Search
Showing results (31-40 of 164) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics
|
March 14, 2002
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
Christiane Zweier, Beate Albrecht, Beate Mitulla, 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.
European Journal of Endocrinology
|
February 19, 2026
Exome Findings in Children with Short Stature Evaluated by Growth Hormone Stimulation Testing
Idoia Martinez de Lapiscina, Matthias Zürcher, Tanja Zingg, et al.
European Journal of Medical Genetics
|
December 18, 2020
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder
Katalin L M L Hetzelt, Frank Kerling, Cornelia Kraus, et al.
Journal of Medical Genetics
|
December 2, 2009
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
Ralf Rauch, Michael Hofbeck, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
Roksana Armani, Hayley Archer, Angus Clarke, et al.
Headache
|
April 15, 2026
Learnings from familial visual snow syndrome: A case series
Laura Weichsel, Nedelina Slavova, Franz Riederer, et al.
BMC Cancer
|
May 12, 2019
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability
Bernt Popp, Abbas Agaimy, Cornelia Kraus, et al.
American Journal of Human Genetics
|
September 5, 2015
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
Georgia Vasileiou, Arif B Ekici, Steffen Uebe, et al.
Page
of 17