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Beatrice Oneda

Showing results (21-30 of 34) with videos related to

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European Journal of Obstetrics, Gynecology, and Reproductive Biology|March 19, 2016
Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalitiesBeatrice Oneda, Katharina Steindl, Rahim Masood, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disabilityReza Asadollahi, Beatrice Oneda, Frenny Sheth, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 20, 2019
Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathwaysVinita Jagannath, Edna Grünblatt, Anastasia Theodoridou, et al.
European Journal of Human Genetics : EJHG|April 3, 2023
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohortPaolo Zanoni, Katharina Steindl, Heinrich Sticht, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|July 4, 2020
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testingBeatrice Oneda, Pietro Sirleto, Rosa Baldinger, et al.
NPJ Genomic Medicine|July 29, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disordersParanchai Boonsawat, Anselm H C Horn, Katharina Steindl, et al.
Prenatal Diagnosis|June 13, 2014
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic powerBeatrice Oneda, Rosa Baldinger, Regina Reissmann, et al.
The Journal of Clinical Investigation|March 2, 2026
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone diseaseJohannes Münch, Jana Petrovska, Joana Figueiro-Silva, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
European Journal of Obstetrics, Gynecology, and Reproductive Biology|March 19, 2016
Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalitiesBeatrice Oneda, Katharina Steindl, Rahim Masood, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disabilityReza Asadollahi, Beatrice Oneda, Frenny Sheth, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 20, 2019
Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathwaysVinita Jagannath, Edna Grünblatt, Anastasia Theodoridou, et al.
European Journal of Human Genetics : EJHG|April 3, 2023
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohortPaolo Zanoni, Katharina Steindl, Heinrich Sticht, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|July 4, 2020
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testingBeatrice Oneda, Pietro Sirleto, Rosa Baldinger, et al.
NPJ Genomic Medicine|July 29, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disordersParanchai Boonsawat, Anselm H C Horn, Katharina Steindl, et al.
Prenatal Diagnosis|June 13, 2014
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic powerBeatrice Oneda, Rosa Baldinger, Regina Reissmann, et al.
The Journal of Clinical Investigation|March 2, 2026
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone diseaseJohannes Münch, Jana Petrovska, Joana Figueiro-Silva, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Pageof 4