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Nadia Schoenmakers

Showing results (1-10 of 43) with videos related to

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European Journal of Endocrinology|May 19, 2022
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidismCatherine Peters, Nadia Schoenmakers
BMJ Case Reports|November 14, 2023
Rare case of central congenital hypothyroidism due to a <i>TSHβ</i> mutation presenting with macro-orchidismMadhura Bharat Karguppikar, Nadia Schoenmakers, Vaman Khadilkar, et al.
Hormone Research in Paediatrics|November 11, 2019
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary DysfunctionRathi Prasad, Adeline K Nicholas, Nadia Schoenmakers, et al.
European Thyroid Journal|March 18, 2025
Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challengesAthanasia Stoupa, Aurore Carré, Michel Polak, et al.
The Journal of Endocrinology|September 30, 2015
Recent advances in central congenital hypothyroidismNadia Schoenmakers, Kyriaki S Alatzoglou, V Krishna Chatterjee, et al.
Frontiers in Endocrinology|August 9, 2020
Genetics of Gland-<i>in-situ</i> or Hypoplastic Congenital Hypothyroidism in MacedoniaNikolina Zdraveska, Mirjana Kocova, Adeline K Nicholas, et al.
Hormone Research in Paediatrics|January 31, 2024
Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene: Case Series of 3 PatientsHelen MacGloin, Nadia Schoenmakers, Catherine Moorwood, et al.
Clinical Endocrinology|August 23, 2022
Genetic disorders of thyroid development, hormone biosynthesis and signallingCarla Moran, Nadia Schoenmakers, W Edward Visser, et al.
Biochimica Et Biophysica Acta|March 27, 2013
Resistance to thyroid hormone mediated by defective thyroid hormone receptor alphaNadia Schoenmakers, Carla Moran, Robin P Peeters, et al.
Journal of Clinical Research in Pediatric Endocrinology|April 9, 2021
A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean InfantEve Stern, Nadia Schoenmakers, Adeline K. Nicholas, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
European Journal of Endocrinology|May 19, 2022
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidismCatherine Peters, Nadia Schoenmakers
BMJ Case Reports|November 14, 2023
Rare case of central congenital hypothyroidism due to a <i>TSHβ</i> mutation presenting with macro-orchidismMadhura Bharat Karguppikar, Nadia Schoenmakers, Vaman Khadilkar, et al.
Hormone Research in Paediatrics|November 11, 2019
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary DysfunctionRathi Prasad, Adeline K Nicholas, Nadia Schoenmakers, et al.
European Thyroid Journal|March 18, 2025
Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challengesAthanasia Stoupa, Aurore Carré, Michel Polak, et al.
The Journal of Endocrinology|September 30, 2015
Recent advances in central congenital hypothyroidismNadia Schoenmakers, Kyriaki S Alatzoglou, V Krishna Chatterjee, et al.
Frontiers in Endocrinology|August 9, 2020
Genetics of Gland-<i>in-situ</i> or Hypoplastic Congenital Hypothyroidism in MacedoniaNikolina Zdraveska, Mirjana Kocova, Adeline K Nicholas, et al.
Hormone Research in Paediatrics|January 31, 2024
Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene: Case Series of 3 PatientsHelen MacGloin, Nadia Schoenmakers, Catherine Moorwood, et al.
Clinical Endocrinology|August 23, 2022
Genetic disorders of thyroid development, hormone biosynthesis and signallingCarla Moran, Nadia Schoenmakers, W Edward Visser, et al.
Biochimica Et Biophysica Acta|March 27, 2013
Resistance to thyroid hormone mediated by defective thyroid hormone receptor alphaNadia Schoenmakers, Carla Moran, Robin P Peeters, et al.
Journal of Clinical Research in Pediatric Endocrinology|April 9, 2021
A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean InfantEve Stern, Nadia Schoenmakers, Adeline K. Nicholas, et al.
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