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David Monk

Showing results (91-100 of 101) with videos related to

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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.
European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, 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.
Human Mutation|September 9, 2014
A new overgrowth syndrome is due to mutations in RNF125Jair Tenorio, Alicia Mansilla, María Valencia, et al.
Nature Reviews. Endocrinology|September 3, 2016
Diagnosis and management of Silver-Russell syndrome: first international consensus statementEmma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, et al.
Genome Research|May 27, 2011
A DNA methylation fingerprint of 1628 human samplesAgustin F Fernandez, Yassen Assenov, Jose Ignacio Martin-Subero, 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.
ERJ Open Research|June 30, 2026
Exploring glucocorticoid receptor signalling in lymphangioleiomyomatosisAlexandra Baiges, Lara Ruiz-Auladell, Irene García, et al.
Gastroenterology|December 3, 2014
Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagusClaire Palles, Laura Chegwidden, Xinzhong Li, et al.
Pageof 11

Showing results (91-100 of 101) with videos related to

Sort By:
Pageof 11
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.
European Journal of Human Genetics : EJHG|October 29, 2015
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingThomas Eggermann, Frédéric Brioude, Silvia Russo, 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.
Human Mutation|September 9, 2014
A new overgrowth syndrome is due to mutations in RNF125Jair Tenorio, Alicia Mansilla, María Valencia, et al.
Nature Reviews. Endocrinology|September 3, 2016
Diagnosis and management of Silver-Russell syndrome: first international consensus statementEmma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, et al.
Genome Research|May 27, 2011
A DNA methylation fingerprint of 1628 human samplesAgustin F Fernandez, Yassen Assenov, Jose Ignacio Martin-Subero, 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.
ERJ Open Research|June 30, 2026
Exploring glucocorticoid receptor signalling in lymphangioleiomyomatosisAlexandra Baiges, Lara Ruiz-Auladell, Irene García, et al.
Gastroenterology|December 3, 2014
Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagusClaire Palles, Laura Chegwidden, Xinzhong Li, et al.
Pageof 11