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Dirk Schnabel

Showing results (31-40 of 76) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|April 29, 2017
Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation ChangesAnnette Grüters-Kieslich, Monica Reyes, Amita Sharma, et al.
European Journal of Medical Genetics|July 14, 2012
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosisJohanna Korvala, Marika Löija, Outi Mäkitie, et al.
Pediatric Nephrology (Berlin, Germany)|December 2, 2010
Age-related stature and linear body segments in children with X-linked hypophosphatemic ricketsMiroslav Zivičnjak, Dirk Schnabel, Heiko Billing, et al.
Human Mutation|August 19, 2007
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 27, 2021
Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic ControlAlexander J Eckert, Oliver Semler, Dirk Schnabel, et al.
The Journal of Clinical Endocrinology and Metabolism|February 4, 2011
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarismKyriaki S Alatzoglou, Daniel Kelberman, Christopher T Cowell, et al.
Orphanet Journal of Rare Diseases|February 28, 2019
FGF23 and its role in X-linked hypophosphatemia-related morbiditySigne Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2010
Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptorsSaskia Letz, Ramona Rus, Christine Haag, et al.
Frontiers in Endocrinology|February 17, 2023
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countriesM Zulf Mughal, Giampiero I Baroncelli, Carmen de Lucas-Collantes, et al.
Orphanet Journal of Rare Diseases|July 2, 2020
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational studyRaja Padidela, Ola Nilsson, Outi Makitie, et al.
Pageof 8

Showing results (31-40 of 76) with videos related to

Sort By:
Pageof 8
The Journal of Clinical Endocrinology and Metabolism|April 29, 2017
Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation ChangesAnnette Grüters-Kieslich, Monica Reyes, Amita Sharma, et al.
European Journal of Medical Genetics|July 14, 2012
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosisJohanna Korvala, Marika Löija, Outi Mäkitie, et al.
Pediatric Nephrology (Berlin, Germany)|December 2, 2010
Age-related stature and linear body segments in children with X-linked hypophosphatemic ricketsMiroslav Zivičnjak, Dirk Schnabel, Heiko Billing, et al.
Human Mutation|August 19, 2007
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 27, 2021
Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic ControlAlexander J Eckert, Oliver Semler, Dirk Schnabel, et al.
The Journal of Clinical Endocrinology and Metabolism|February 4, 2011
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarismKyriaki S Alatzoglou, Daniel Kelberman, Christopher T Cowell, et al.
Orphanet Journal of Rare Diseases|February 28, 2019
FGF23 and its role in X-linked hypophosphatemia-related morbiditySigne Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2010
Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptorsSaskia Letz, Ramona Rus, Christine Haag, et al.
Frontiers in Endocrinology|February 17, 2023
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countriesM Zulf Mughal, Giampiero I Baroncelli, Carmen de Lucas-Collantes, et al.
Orphanet Journal of Rare Diseases|July 2, 2020
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational studyRaja Padidela, Ola Nilsson, Outi Makitie, et al.
Pageof 8