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Karl Peter

Showing results (351-360 of 373) with videos related to

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Nature Genetics|February 28, 2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathyDaniel Kotlarz, Benjamin Marquardt, Tuva Barøy, et al.
American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.
The Journal of Clinical Endocrinology and Metabolism|April 25, 2023
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked HypophosphatemiaAnnika Ewert, Mirko Rehberg, Karl Peter Schlingmann, et al.
Calcified Tissue International|March 28, 2025
Office Blood Pressure and Obesity in Children with X-Linked HypophosphatemiaIneke Böckmann, Maren Leifheit-Nestler, Mirko Rehberg, et al.
The Journal of Clinical Endocrinology and Metabolism|March 14, 2023
Expanding the Phenotypic Spectrum of Kenny-Caffey SyndromeHeidi Schigt, Martin Bald, Bram C J van der Eerden, et al.
Human Mutation|February 18, 2021
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)Gijs A C Franken, Dominik Müller, Cyril Mignot, et al.
Journal of the American Society of Nephrology : JASN|April 5, 2014
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosisDebayan Dasgupta, Mark J Wee, Monica Reyes, et al.
The Journal of Clinical Endocrinology and Metabolism|March 15, 2023
Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature reviewHeidi Schigt, Martin Bald, Bram C J van der Eerden, et al.
Blood|June 1, 2012
GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemiaPhilipp A Greif, Annika Dufour, Nikola P Konstandin, et al.
Kidney International Reports|October 27, 2025
Novel <i>RRAGD</i> Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic PerspectivesAnastasia Adella, François Jouret, Leire Madariaga, et al.
Pageof 38

Showing results (351-360 of 373) with videos related to

Sort By:
Pageof 38
Nature Genetics|February 28, 2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathyDaniel Kotlarz, Benjamin Marquardt, Tuva Barøy, et al.
American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.
The Journal of Clinical Endocrinology and Metabolism|April 25, 2023
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked HypophosphatemiaAnnika Ewert, Mirko Rehberg, Karl Peter Schlingmann, et al.
Calcified Tissue International|March 28, 2025
Office Blood Pressure and Obesity in Children with X-Linked HypophosphatemiaIneke Böckmann, Maren Leifheit-Nestler, Mirko Rehberg, et al.
The Journal of Clinical Endocrinology and Metabolism|March 14, 2023
Expanding the Phenotypic Spectrum of Kenny-Caffey SyndromeHeidi Schigt, Martin Bald, Bram C J van der Eerden, et al.
Human Mutation|February 18, 2021
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)Gijs A C Franken, Dominik Müller, Cyril Mignot, et al.
Journal of the American Society of Nephrology : JASN|April 5, 2014
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosisDebayan Dasgupta, Mark J Wee, Monica Reyes, et al.
The Journal of Clinical Endocrinology and Metabolism|March 15, 2023
Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature reviewHeidi Schigt, Martin Bald, Bram C J van der Eerden, et al.
Blood|June 1, 2012
GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemiaPhilipp A Greif, Annika Dufour, Nikola P Konstandin, et al.
Kidney International Reports|October 27, 2025
Novel <i>RRAGD</i> Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic PerspectivesAnastasia Adella, François Jouret, Leire Madariaga, et al.
Pageof 38