Search research articles
Contact Us
Filters
Showing results (1-10 of 8) with videos related to
Page
of 1
Sort By:
European Journal of Human Genetics : EJHG
|
July 4, 2020
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Sabina Baumgartner-Parzer, Martina Witsch-Baumgartner, Wolfgang Hoeppner
European Journal of Endocrinology
|
October 27, 2020
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting
Susanne Thiele, Ralf Werner, Annika Stubbe, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 5, 2005
Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism
Karin Frank-Raue, Susanne Rondot, Wolfgang Hoeppner, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association
|
March 5, 2026
Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism
Leonie Wittner, Santosh Mahindrakar, Ali Yasin, et al.
Endocrinology, Diabetes & Metabolism Case Reports
|
September 20, 2017
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
Judith Gerards, Michael M Ritter, Elke Kaminsky, et al.
Plos One
|
October 8, 2013
The association of genetic markers for type 2 diabetes with prediabetic status - cross-sectional data of a diabetes prevention trial
Birgit-Christiane Zyriax, Ramona Salazar, Wolfgang Hoeppner, et al.
Genes, Chromosomes & Cancer
|
March 7, 2006
Characteristic genomic imbalances in pediatric pheochromocytoma
Antje Hering, Monika Guratowska, Peter Bucsky, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 6, 2014
Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study
Christof Schöfl, Jürgen Honegger, Michael Droste, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
European Journal of Human Genetics : EJHG
|
July 4, 2020
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Sabina Baumgartner-Parzer, Martina Witsch-Baumgartner, Wolfgang Hoeppner
European Journal of Endocrinology
|
October 27, 2020
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting
Susanne Thiele, Ralf Werner, Annika Stubbe, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 5, 2005
Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism
Karin Frank-Raue, Susanne Rondot, Wolfgang Hoeppner, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association
|
March 5, 2026
Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism
Leonie Wittner, Santosh Mahindrakar, Ali Yasin, et al.
Endocrinology, Diabetes & Metabolism Case Reports
|
September 20, 2017
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
Judith Gerards, Michael M Ritter, Elke Kaminsky, et al.
Plos One
|
October 8, 2013
The association of genetic markers for type 2 diabetes with prediabetic status - cross-sectional data of a diabetes prevention trial
Birgit-Christiane Zyriax, Ramona Salazar, Wolfgang Hoeppner, et al.
Genes, Chromosomes & Cancer
|
March 7, 2006
Characteristic genomic imbalances in pediatric pheochromocytoma
Antje Hering, Monika Guratowska, Peter Bucsky, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 6, 2014
Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study
Christof Schöfl, Jürgen Honegger, Michael Droste, et al.
Page
of 1