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Carsten Bergmann

Showing results (191-200 of 228) with videos related to

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Journal of Inherited Metabolic Disease|June 10, 2019
Management of bone disease in cystinosis: Statement from an international conferenceKatharina Hohenfellner, Frank Rauch, Gema Ariceta, et al.
Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Clinical Journal of the American Society of Nephrology : CJASN|March 31, 2015
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1Anja Lehnhardt, Claartje Karnatz, Thurid Ahlenstiel-Grunow, et al.
Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Kidney International Reports|September 12, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With NephronophthisisJens Christian König, Rebeka Karsay, Joachim Gerß, et al.
The Journal of Pediatrics|July 13, 2014
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conferenceLisa M Guay-Woodford, John J Bissler, Michael C Braun, et al.
The Journal of Biological Chemistry|March 28, 2021
Collagen IV<sup>α345</sup> dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseasesElena N Pokidysheva, Harald Seeger, Vadim Pedchenko, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
Pageof 23

Showing results (191-200 of 228) with videos related to

Sort By:
Pageof 23
Journal of Inherited Metabolic Disease|June 10, 2019
Management of bone disease in cystinosis: Statement from an international conferenceKatharina Hohenfellner, Frank Rauch, Gema Ariceta, et al.
Human Mutation|July 22, 2014
Mutation of POC1B in a severe syndromic retinal ciliopathyBodo B Beck, Jennifer B Phillips, Malte P Bartram, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Clinical Journal of the American Society of Nephrology : CJASN|March 31, 2015
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1Anja Lehnhardt, Claartje Karnatz, Thurid Ahlenstiel-Grunow, et al.
Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Kidney International Reports|September 12, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With NephronophthisisJens Christian König, Rebeka Karsay, Joachim Gerß, et al.
The Journal of Pediatrics|July 13, 2014
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conferenceLisa M Guay-Woodford, John J Bissler, Michael C Braun, et al.
The Journal of Biological Chemistry|March 28, 2021
Collagen IV<sup>α345</sup> dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseasesElena N Pokidysheva, Harald Seeger, Vadim Pedchenko, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Kidney International|May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variantsKathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
Pageof 23