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Steffen Uebe

Showing results (51-60 of 88) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|August 12, 2021
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi SyndromeElisabeth Bosch, Moritz Hebebrand, Bernt Popp, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneityR Abou Jamra, Sigrun Wohlfart, Markus Zweier, et al.
The Journal of Clinical Investigation|April 17, 2019
Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritisNicole Hannemann, Shan Cao, Daniel Eriksson, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
NDST1 missense mutations in autosomal recessive intellectual disabilityMiriam S Reuter, Luciana Musante, Hao Hu, et al.
Scientific Reports|November 23, 2018
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS ConsortiumBernt Popp, Mandy Krumbiegel, Janina Grosch, et al.
Molecular Psychiatry|January 17, 2025
Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophreniaDaria Chestnykh, Christiane Mühle, Fabian Schumacher, et al.
Journal of Cachexia, Sarcopenia and Muscle|October 30, 2025
R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar MyopathySabrina Batonnet-Pichon, Florence Delort, Alain Lilienbaum, et al.
Scientific Reports|September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureNadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.
Pageof 9

Showing results (51-60 of 88) with videos related to

Sort By:
Pageof 9
The Journal of Clinical Endocrinology and Metabolism|August 12, 2021
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi SyndromeElisabeth Bosch, Moritz Hebebrand, Bernt Popp, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneityR Abou Jamra, Sigrun Wohlfart, Markus Zweier, et al.
The Journal of Clinical Investigation|April 17, 2019
Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritisNicole Hannemann, Shan Cao, Daniel Eriksson, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
NDST1 missense mutations in autosomal recessive intellectual disabilityMiriam S Reuter, Luciana Musante, Hao Hu, et al.
Scientific Reports|November 23, 2018
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS ConsortiumBernt Popp, Mandy Krumbiegel, Janina Grosch, et al.
Molecular Psychiatry|January 17, 2025
Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophreniaDaria Chestnykh, Christiane Mühle, Fabian Schumacher, et al.
Journal of Cachexia, Sarcopenia and Muscle|October 30, 2025
R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar MyopathySabrina Batonnet-Pichon, Florence Delort, Alain Lilienbaum, et al.
Scientific Reports|September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureNadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.
Pageof 9