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Prenatal Diagnosis
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August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype
Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
Clinical Genetics
|
September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)
Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Journal of Medical Genetics
|
September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder
Jeanne Jury, Thomas Besnard, Wallid Deb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
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of 1
Search research articles
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Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Prenatal Diagnosis
|
August 8, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype
Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, et al.
Clinical Genetics
|
September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)
Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Journal of Medical Genetics
|
September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder
Jeanne Jury, Thomas Besnard, Wallid Deb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Page
of 1