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Ingo Kurth

Showing results (51-60 of 145) with videos related to

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Human Molecular Genetics|October 20, 2018
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distributionMichiel Krols, Bob Asselbergh, Riet De Rycke, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyEva Klopocki, Christian Kähler, Nicola Foulds, et al.
The Journal of Molecular Diagnostics : JMD|February 7, 2009
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann, Stefanie Vogt, Siegfried Uhlhaas, et al.
Clinical Genetics|July 29, 2020
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic faciesRobert Meyer, Matthias Begemann, Stephanie Demuth, et al.
International Journal of Pediatric Endocrinology|October 15, 2011
Unique phenotype in a patient with CHARGE syndromeShobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, et al.
Frontiers in Neuroscience|September 26, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic PainJianying Huang, Mark Estacion, Peng Zhao, et al.
Genetics Research|December 24, 2025
Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital HyperinsulinismMatthias Begemann, Johannes Alexander Tobias Boy, Florian Kraft, et al.
Blood Advances|September 3, 2021
Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasmsMiriam Elbracht, Robert Meyer, Kim Kricheldorf, et al.
Human Mutation|October 30, 2018
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VIPaola Fortugno, Francesco Angelucci, Gianluca Cestra, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 24, 2013
Renal intercalated cells are rather energized by a proton than a sodium pumpRégine Chambrey, Ingo Kurth, Janos Peti-Peterdi, et al.
Pageof 15

Showing results (51-60 of 145) with videos related to

Sort By:
Pageof 15
Human Molecular Genetics|October 20, 2018
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distributionMichiel Krols, Bob Asselbergh, Riet De Rycke, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyEva Klopocki, Christian Kähler, Nicola Foulds, et al.
The Journal of Molecular Diagnostics : JMD|February 7, 2009
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann, Stefanie Vogt, Siegfried Uhlhaas, et al.
Clinical Genetics|July 29, 2020
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic faciesRobert Meyer, Matthias Begemann, Stephanie Demuth, et al.
International Journal of Pediatric Endocrinology|October 15, 2011
Unique phenotype in a patient with CHARGE syndromeShobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, et al.
Frontiers in Neuroscience|September 26, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic PainJianying Huang, Mark Estacion, Peng Zhao, et al.
Genetics Research|December 24, 2025
Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital HyperinsulinismMatthias Begemann, Johannes Alexander Tobias Boy, Florian Kraft, et al.
Blood Advances|September 3, 2021
Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasmsMiriam Elbracht, Robert Meyer, Kim Kricheldorf, et al.
Human Mutation|October 30, 2018
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VIPaola Fortugno, Francesco Angelucci, Gianluca Cestra, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 24, 2013
Renal intercalated cells are rather energized by a proton than a sodium pumpRégine Chambrey, Ingo Kurth, Janos Peti-Peterdi, et al.
Pageof 15