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Showing results (31-40 of 41) with videos related to

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Clinical Epigenetics|March 17, 2022
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequencesThomas Eggermann, Elzem Yapici, Jet Bliek, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 26, 2018
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset ObesityPatrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
European Journal of Endocrinology|July 13, 2016
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP networkSusanne Thiele, Giovanna Mantovani, Anne Barlier, et al.
The Journal of Clinical Endocrinology and Metabolism|October 9, 2012
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistanceAgnès Linglart, Helena Fryssira, Olaf Hiort, et al.
Clinical Epigenetics|June 1, 2022
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbancesLaura Pignata, Francesco Cecere, Ankit Verma, et al.
Clinical Epigenetics|November 8, 2022
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disordersDeborah Mackay, Jet Bliek, Masayo Kagami, et al.
Clinical Epigenetics|August 1, 2024
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosisDeborah J G Mackay, Gabriella Gazdagh, David Monk, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Nature Reviews. Endocrinology|July 1, 2018
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus StatementGiovanna Mantovani, Murat Bastepe, David Monk, et al.
Hormone Research in Paediatrics|August 7, 2020
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and PatientsGiovanna Mantovani, Murat Bastepe, David Monk, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Clinical Epigenetics|March 17, 2022
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequencesThomas Eggermann, Elzem Yapici, Jet Bliek, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 26, 2018
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset ObesityPatrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
European Journal of Endocrinology|July 13, 2016
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP networkSusanne Thiele, Giovanna Mantovani, Anne Barlier, et al.
The Journal of Clinical Endocrinology and Metabolism|October 9, 2012
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistanceAgnès Linglart, Helena Fryssira, Olaf Hiort, et al.
Clinical Epigenetics|June 1, 2022
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbancesLaura Pignata, Francesco Cecere, Ankit Verma, et al.
Clinical Epigenetics|November 8, 2022
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disordersDeborah Mackay, Jet Bliek, Masayo Kagami, et al.
Clinical Epigenetics|August 1, 2024
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosisDeborah J G Mackay, Gabriella Gazdagh, David Monk, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Nature Reviews. Endocrinology|July 1, 2018
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus StatementGiovanna Mantovani, Murat Bastepe, David Monk, et al.
Hormone Research in Paediatrics|August 7, 2020
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and PatientsGiovanna Mantovani, Murat Bastepe, David Monk, et al.
Pageof 5