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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 Changes
Annette 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 osteoporosis
Johanna 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 rickets
Miroslav 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 insufficiency
Birgit 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 Control
Alexander 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 hypopituitarism
Kyriaki 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 morbidity
Signe 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 receptors
Saskia 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 countries
M 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 study
Raja Padidela, Ola Nilsson, Outi Makitie, et al.
Page
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Search research articles
Search
Showing results (31-40 of 76) with videos related to
Sort By:
Page
of 8
The Journal of Clinical Endocrinology and Metabolism
|
April 29, 2017
Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes
Annette 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 osteoporosis
Johanna 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 rickets
Miroslav 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 insufficiency
Birgit 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 Control
Alexander 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 hypopituitarism
Kyriaki 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 morbidity
Signe 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 receptors
Saskia 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 countries
M 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 study
Raja Padidela, Ola Nilsson, Outi Makitie, et al.
Page
of 8