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Carsten Bergmann

Showing results (91-100 of 228) with videos related to

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The Journal of Investigative Dermatology|October 5, 2007
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4Nadina Ortiz Brüchle, Jorge Frank, Valeska Frank, et al.
HGG Advances|September 11, 2025
PATJ deficiency leads to cystic kidney disease and related ciliopathiesDaniel Epting, Daniela A Braun, Eva Decker, et al.
JHEP Reports : Innovation in Hepatology|October 17, 2022
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysisDana Sierks, Ria Schönauer, Anja Friedrich, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 27, 2008
Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFRAnja Arbeiter, Rainer Büscher, Klaus-Eugen Bonzel, et al.
Human Mutation|March 12, 2014
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafnessTobias Eisenberger, Nataliya Di Donato, Shahid M Baig, et al.
Journal of Medical Genetics|August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndromeSilke Pauli, Janine Altmüller, Simone Schröder, et al.
Scientific Reports|October 17, 2023
A novel role for the chloride intracellular channel protein Clic5 in ciliary functionElisabeth Ott, Sylvia Hoff, Lara Indorf, et al.
Journal of Pediatric Hematology/Oncology|October 6, 2010
Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and earlier undetected autosomal dominant polycystic kidney disease (ADPKD)Martin Alberer, Julia Hoefele, Carsten Bergmann, et al.
Orphanet Journal of Rare Diseases|September 4, 2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger, Rima Slim, Ahmad Mansour, et al.
Human Mutation|April 27, 2004
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Frank Schneider, et al.
Pageof 23

Showing results (91-100 of 228) with videos related to

Sort By:
Pageof 23
The Journal of Investigative Dermatology|October 5, 2007
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4Nadina Ortiz Brüchle, Jorge Frank, Valeska Frank, et al.
HGG Advances|September 11, 2025
PATJ deficiency leads to cystic kidney disease and related ciliopathiesDaniel Epting, Daniela A Braun, Eva Decker, et al.
JHEP Reports : Innovation in Hepatology|October 17, 2022
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysisDana Sierks, Ria Schönauer, Anja Friedrich, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 27, 2008
Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFRAnja Arbeiter, Rainer Büscher, Klaus-Eugen Bonzel, et al.
Human Mutation|March 12, 2014
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafnessTobias Eisenberger, Nataliya Di Donato, Shahid M Baig, et al.
Journal of Medical Genetics|August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndromeSilke Pauli, Janine Altmüller, Simone Schröder, et al.
Scientific Reports|October 17, 2023
A novel role for the chloride intracellular channel protein Clic5 in ciliary functionElisabeth Ott, Sylvia Hoff, Lara Indorf, et al.
Journal of Pediatric Hematology/Oncology|October 6, 2010
Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and earlier undetected autosomal dominant polycystic kidney disease (ADPKD)Martin Alberer, Julia Hoefele, Carsten Bergmann, et al.
Orphanet Journal of Rare Diseases|September 4, 2012
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger, Rima Slim, Ahmad Mansour, et al.
Human Mutation|April 27, 2004
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Frank Schneider, et al.
Pageof 23