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Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
|
December 28, 2014
Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy
Zelda Stewart, Arnaud Molin, Nathalie Leporrier, et al.
Orphanet Journal of Rare Diseases
|
February 6, 2026
Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria
Marie-Thérèse Eid, Aurélie de Mul, Laure Muresan-Vintila, et al.
Nature Communications
|
December 8, 2020
Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia
Daniela Rovito, Anna Y Belorusova, Sandra Chalhoub, et al.
Bone
|
March 26, 2019
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B
Cindy Colson, Matthieu Decamp, Nicolas Gruchy, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 18, 2017
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)<sub>2</sub> D<sub>3</sub> in Affected Patients
Martin Kaufmann, Nicole Morse, Billy Joe Molloy, et al.
European Journal of Medical Genetics
|
August 20, 2013
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, et al.
Trials
|
June 16, 2022
Fluconazole in hypercalciuric patients with increased 1,25(OH)<sub>2</sub>D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial
Aurélia Bertholet-Thomas, Aurélie Portefaix, Sacha Flammier, et al.
Journal of Neuropathology and Experimental Neurology
|
April 11, 2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
Annie Laquerriere, Camille Maillard, Mara Cavallin, et al.
Frontiers in Endocrinology
|
November 1, 2021
Overlapping Phenotypes Associated With <i>CYP24A1</i>, <i>SLC34A1</i>, and <i>SLC34A3</i> Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, et al.
Annales D'Endocrinologie
|
July 6, 2016
Hyperparathyroidism complicating CYP 24A1 mutations
Camille Loyer, Clara Leroy, Arnaud Molin, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 50) with videos related to
Sort By:
Page
of 5
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
|
December 28, 2014
Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy
Zelda Stewart, Arnaud Molin, Nathalie Leporrier, et al.
Orphanet Journal of Rare Diseases
|
February 6, 2026
Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria
Marie-Thérèse Eid, Aurélie de Mul, Laure Muresan-Vintila, et al.
Nature Communications
|
December 8, 2020
Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia
Daniela Rovito, Anna Y Belorusova, Sandra Chalhoub, et al.
Bone
|
March 26, 2019
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B
Cindy Colson, Matthieu Decamp, Nicolas Gruchy, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 18, 2017
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)<sub>2</sub> D<sub>3</sub> in Affected Patients
Martin Kaufmann, Nicole Morse, Billy Joe Molloy, et al.
European Journal of Medical Genetics
|
August 20, 2013
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, et al.
Trials
|
June 16, 2022
Fluconazole in hypercalciuric patients with increased 1,25(OH)<sub>2</sub>D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial
Aurélia Bertholet-Thomas, Aurélie Portefaix, Sacha Flammier, et al.
Journal of Neuropathology and Experimental Neurology
|
April 11, 2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
Annie Laquerriere, Camille Maillard, Mara Cavallin, et al.
Frontiers in Endocrinology
|
November 1, 2021
Overlapping Phenotypes Associated With <i>CYP24A1</i>, <i>SLC34A1</i>, and <i>SLC34A3</i> Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, et al.
Annales D'Endocrinologie
|
July 6, 2016
Hyperparathyroidism complicating CYP 24A1 mutations
Camille Loyer, Clara Leroy, Arnaud Molin, et al.
Page
of 5