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Katrin Koehler

Showing results (41-50 of 46) with videos related to

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International Journal of Molecular Sciences|May 25, 2024
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia-<i>CYP21A2</i>-R484Q Mutant MouseShamini Ramkumar Thirumalasetty, Tina Schubert, Ronald Naumann, et al.
Cell Stem Cell|April 16, 2019
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCsMagdalena Laugsch, Michaela Bartusel, Rizwan Rehimi, et al.
Hormone Research in Paediatrics|April 11, 2017
Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a ChildMaria Candida Barisson Villares Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, et al.
HGG Advances|July 14, 2024
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndromeDaphne J Smits, Jordy Dekker, Hannie Douben, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
Journal of the Endocrine Society|July 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UKFederica Buonocore, Avinaash Maharaj, Younus Qamar, et al.
Pageof 5

Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
International Journal of Molecular Sciences|May 25, 2024
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia-<i>CYP21A2</i>-R484Q Mutant MouseShamini Ramkumar Thirumalasetty, Tina Schubert, Ronald Naumann, et al.
Cell Stem Cell|April 16, 2019
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCsMagdalena Laugsch, Michaela Bartusel, Rizwan Rehimi, et al.
Hormone Research in Paediatrics|April 11, 2017
Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a ChildMaria Candida Barisson Villares Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, et al.
HGG Advances|July 14, 2024
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndromeDaphne J Smits, Jordy Dekker, Hannie Douben, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
Journal of the Endocrine Society|July 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UKFederica Buonocore, Avinaash Maharaj, Younus Qamar, et al.
Pageof 5