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Carsten Bergmann

Showing results (201-210 of 228) with videos related to

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Gastroenterology|December 15, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver DiseaseRia Schönauer, Dana Sierks, Melissa Boerrigter, et al.
Nature Genetics|May 23, 2017
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney diseaseHao Lu, Maria C Rondón Galeano, Elisabeth Ott, et al.
Journal of the American Society of Nephrology : JASN|October 5, 2021
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNADaan Viering, Karl P Schlingmann, Marguerite Hureaux, et al.
American Journal of Human Genetics|April 9, 2022
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutationsJohn Devane, Elisabeth Ott, Eric G Olinger, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
The Journal of Clinical Investigation|June 1, 2022
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal functionMathilda Bedin, Olivia Boyer, Aude Servais, et al.
Journal of the American Society of Nephrology : JASN|October 5, 2021
mTOR-Activating Mutations in <i>RRAGD</i> Are Causative for Kidney Tubulopathy and CardiomyopathyKarl P Schlingmann, François Jouret, Kuang Shen, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
The Journal of Clinical Investigation|October 16, 2019
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal functionMathilda Bedin, Olivia Boyer, Aude Servais, et al.
Pageof 23

Showing results (201-210 of 228) with videos related to

Sort By:
Pageof 23
Gastroenterology|December 15, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver DiseaseRia Schönauer, Dana Sierks, Melissa Boerrigter, et al.
Nature Genetics|May 23, 2017
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney diseaseHao Lu, Maria C Rondón Galeano, Elisabeth Ott, et al.
Journal of the American Society of Nephrology : JASN|October 5, 2021
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNADaan Viering, Karl P Schlingmann, Marguerite Hureaux, et al.
American Journal of Human Genetics|April 9, 2022
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutationsJohn Devane, Elisabeth Ott, Eric G Olinger, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
The Journal of Clinical Investigation|June 1, 2022
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal functionMathilda Bedin, Olivia Boyer, Aude Servais, et al.
Journal of the American Society of Nephrology : JASN|October 5, 2021
mTOR-Activating Mutations in <i>RRAGD</i> Are Causative for Kidney Tubulopathy and CardiomyopathyKarl P Schlingmann, François Jouret, Kuang Shen, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
The Journal of Clinical Investigation|October 16, 2019
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal functionMathilda Bedin, Olivia Boyer, Aude Servais, et al.
Pageof 23