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Carsten Bergmann

Showing results (141-150 of 228) with videos related to

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Kidney International Reports|May 20, 2024
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement InhibitionJessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, et al.
Kidney International|February 9, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Ellen Windelen, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, et al.
Kidney International|June 8, 2020
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitmentRia Schönauer, Wenjun Jin, Anastasia Ertel, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2002
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa, Sonja Matthiesen, Luiz F Onuchic, et al.
Journal of the American Society of Nephrology : JASN|December 31, 2002
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann, Jan Senderek, Beate Sedlacek, et al.
Biorxiv : the Preprint Server for Biology|September 10, 2024
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKDUyen Tran, Andrew J Streets, Devon Smith, et al.
JAMA Pediatrics|November 29, 2017
Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature ReviewsCharlotte Gimpel, Fred E Avni, Carsten Bergmann, et al.
Klinische Padiatrie|March 8, 2024
[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]Metin Cetiner, Carsten Bergmann, Markus Bettendorf, et al.
Pageof 23

Showing results (141-150 of 228) with videos related to

Sort By:
Pageof 23
Kidney International Reports|May 20, 2024
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement InhibitionJessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, et al.
Kidney International|February 9, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Ellen Windelen, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, et al.
Kidney International|June 8, 2020
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitmentRia Schönauer, Wenjun Jin, Anastasia Ertel, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2002
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa, Sonja Matthiesen, Luiz F Onuchic, et al.
Journal of the American Society of Nephrology : JASN|December 31, 2002
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann, Jan Senderek, Beate Sedlacek, et al.
Biorxiv : the Preprint Server for Biology|September 10, 2024
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKDUyen Tran, Andrew J Streets, Devon Smith, et al.
JAMA Pediatrics|November 29, 2017
Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature ReviewsCharlotte Gimpel, Fred E Avni, Carsten Bergmann, et al.
Klinische Padiatrie|March 8, 2024
[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]Metin Cetiner, Carsten Bergmann, Markus Bettendorf, et al.
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