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Frederic Brioude

Showing results (11-20 of 17) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|September 2, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ developmentXiao-Jun Li, Charles Morgan, Phan Q Duy, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentXiao-Jun Li, Lin Li, Charles Morgan, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, 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.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Proceedings of the National Academy of Sciences of the United States of America|September 2, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ developmentXiao-Jun Li, Charles Morgan, Phan Q Duy, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentXiao-Jun Li, Lin Li, Charles Morgan, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, 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.
Pageof 2