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Katrin Koehler

Showing results (11-20 of 46) with videos related to

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Hormone Research|March 18, 2006
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndromeTina Dusek, Marta Korsic, Katrin Koehler, et al.
Antibiotics (Basel, Switzerland)|January 21, 2023
Relationship between Phenotypic and Genotypic Resistance of Subgingival Biofilm Samples in Patients with PeriodontitisMoritz Sparbrod, Yann Gager, Anne-Katrin Koehler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 9, 2022
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation familyFriederike Quitter, Monika Flury, Stephan Waldmueller, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndromeKatrin Koehler, Markus Schuelke, Anna K Hell, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 18, 2015
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed pubertyHaidar Bustanji, Bashar Sahar, Angela Huebner, et al.
Neurogastroenterology and Motility|June 24, 2020
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasiaKatrin Koehler, Dorra Hmida, Jens Schlossmann, et al.
European Journal of Pediatrics|May 26, 2010
Triple A syndrome: 32 years experience of a single centre (1977-2008)Tatjana Milenkovic, Dragan Zdravkovic, Natasa Savic, et al.
Biology Open|January 25, 2018
Compensation for chronic oxidative stress in ALADIN null miceRamona Jühlen, Mirko Peitzsch, Sebastian Gärtner, et al.
European Journal of Human Genetics : EJHG|July 17, 2008
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430PheKatrin Koehler, Knut Brockmann, Manuela Krumbholz, et al.
European Journal of Medical Genetics|May 10, 2019
Homozygous deletion of the entire AAAS gene in a triple A syndrome patientKatrin Koehler, Karl Hackmann, Dana Landgraf, et al.
Pageof 5

Showing results (11-20 of 46) with videos related to

Sort By:
Pageof 5
Hormone Research|March 18, 2006
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndromeTina Dusek, Marta Korsic, Katrin Koehler, et al.
Antibiotics (Basel, Switzerland)|January 21, 2023
Relationship between Phenotypic and Genotypic Resistance of Subgingival Biofilm Samples in Patients with PeriodontitisMoritz Sparbrod, Yann Gager, Anne-Katrin Koehler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 9, 2022
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation familyFriederike Quitter, Monika Flury, Stephan Waldmueller, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndromeKatrin Koehler, Markus Schuelke, Anna K Hell, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 18, 2015
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed pubertyHaidar Bustanji, Bashar Sahar, Angela Huebner, et al.
Neurogastroenterology and Motility|June 24, 2020
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasiaKatrin Koehler, Dorra Hmida, Jens Schlossmann, et al.
European Journal of Pediatrics|May 26, 2010
Triple A syndrome: 32 years experience of a single centre (1977-2008)Tatjana Milenkovic, Dragan Zdravkovic, Natasa Savic, et al.
Biology Open|January 25, 2018
Compensation for chronic oxidative stress in ALADIN null miceRamona Jühlen, Mirko Peitzsch, Sebastian Gärtner, et al.
European Journal of Human Genetics : EJHG|July 17, 2008
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430PheKatrin Koehler, Knut Brockmann, Manuela Krumbholz, et al.
European Journal of Medical Genetics|May 10, 2019
Homozygous deletion of the entire AAAS gene in a triple A syndrome patientKatrin Koehler, Karl Hackmann, Dana Landgraf, et al.
Pageof 5