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Roland Pfäffle

Showing results (41-50 of 69) with videos related to

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Journal of Pediatric Endocrinology & Metabolism : JPEM|August 26, 2014
Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose toleranceSebastian Burkhardt, Julia Gesing, Thomas M Kapellen, et al.
European Journal of Endocrinology|October 10, 2012
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformationsMarie-Hélène Gannagé-Yared, Jürgen Klammt, Eliane Chouery, et al.
Clinical Chemistry and Laboratory Medicine|June 2, 2011
Harmonization of growth hormone measurements with different immunoassays by data adjustmentAnne Müller, Markus Scholz, Oliver Blankenstein, et al.
Plos One|June 14, 2012
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutationEva Müller, Desiree Dunstheimer, Jürgen Klammt, et al.
The Journal of Clinical Endocrinology and Metabolism|January 28, 2010
Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardationTassilo Kruis, Jürgen Klammt, Assimina Galli-Tsinopoulou, et al.
BMC Endocrine Disorders|December 3, 2013
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiencyJana Breitfeld, Susanne Martens, Jürgen Klammt, et al.
Communications Medicine|October 31, 2025
A prospective cohort analysis from Germany shows transition into adulthood is an underestimated vulnerable period for children with overweight/obesityJohannes Riedel, Natascha Genge, Klara Meyer, et al.
The Journal of Clinical Endocrinology and Metabolism|April 2, 2010
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardationTillmann Wallborn, Stefan Wüller, Jürgen Klammt, et al.
Open Access Macedonian Journal of Medical Sciences|December 19, 2018
<i>IGF1R</i> Gene Alterations in Children Born Small for Gestitional Age (SGA)Aleksandra Janchevska, Marina Krstevska-Konstantinova, Heike Pfäffle, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 9, 2017
Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in childrenJan Windholz, Peter Kovacs, Marina Schlicke, et al.
Pageof 7

Showing results (41-50 of 69) with videos related to

Sort By:
Pageof 7
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 26, 2014
Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose toleranceSebastian Burkhardt, Julia Gesing, Thomas M Kapellen, et al.
European Journal of Endocrinology|October 10, 2012
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformationsMarie-Hélène Gannagé-Yared, Jürgen Klammt, Eliane Chouery, et al.
Clinical Chemistry and Laboratory Medicine|June 2, 2011
Harmonization of growth hormone measurements with different immunoassays by data adjustmentAnne Müller, Markus Scholz, Oliver Blankenstein, et al.
Plos One|June 14, 2012
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutationEva Müller, Desiree Dunstheimer, Jürgen Klammt, et al.
The Journal of Clinical Endocrinology and Metabolism|January 28, 2010
Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardationTassilo Kruis, Jürgen Klammt, Assimina Galli-Tsinopoulou, et al.
BMC Endocrine Disorders|December 3, 2013
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiencyJana Breitfeld, Susanne Martens, Jürgen Klammt, et al.
Communications Medicine|October 31, 2025
A prospective cohort analysis from Germany shows transition into adulthood is an underestimated vulnerable period for children with overweight/obesityJohannes Riedel, Natascha Genge, Klara Meyer, et al.
The Journal of Clinical Endocrinology and Metabolism|April 2, 2010
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardationTillmann Wallborn, Stefan Wüller, Jürgen Klammt, et al.
Open Access Macedonian Journal of Medical Sciences|December 19, 2018
<i>IGF1R</i> Gene Alterations in Children Born Small for Gestitional Age (SGA)Aleksandra Janchevska, Marina Krstevska-Konstantinova, Heike Pfäffle, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 9, 2017
Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in childrenJan Windholz, Peter Kovacs, Marina Schlicke, et al.
Pageof 7