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Ayala Frumkin

Showing results (21-30 of 39) with videos related to

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The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|April 30, 2019
Is fetal isolated double renal collecting system an indication for chromosomal microarray?Amihood Singer, Idit Maya, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndromeMorasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.
Human Mutation|December 24, 2025
Homozygous Deletion of the Epigenetic Regulator <i>PHF20</i> in Individuals With Neurodevelopmental DisorderShira Yanovsky Dagan, Hongwen Xuan, Jonathan Rips, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative regionMarina Michelson, Anat Ben-Sasson, Chana Vinkler, et al.
Prenatal Diagnosis|June 16, 2021
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingTova Wagner, Duha Fahham, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|May 30, 2025
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing SynpolydactylyJonathan Rips, Rivka Birnbaum, Chaim Jalas, et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics|November 1, 2019
Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancyHagit Daum, Ayala Frumkin, Vardiella Meiner, et al.
Neurogenetics|October 23, 2014
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A geneRuth Sheffer, Odeya Bennett-Back, Barak Yaacov, et al.
Journal of Medical Genetics|March 10, 2022
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcomeHagit Daum, Reeval Segel, Vardiella Meiner, et al.
Obstetrics and Gynecology|December 7, 2019
Information Women Choose to Receive About Prenatal Chromosomal Microarray AnalysisHagit Hochner, Hagit Daum, Liza Douiev, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

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Pageof 4
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|April 30, 2019
Is fetal isolated double renal collecting system an indication for chromosomal microarray?Amihood Singer, Idit Maya, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndromeMorasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.
Human Mutation|December 24, 2025
Homozygous Deletion of the Epigenetic Regulator <i>PHF20</i> in Individuals With Neurodevelopmental DisorderShira Yanovsky Dagan, Hongwen Xuan, Jonathan Rips, et al.
American Journal of Medical Genetics. Part A|May 16, 2012
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative regionMarina Michelson, Anat Ben-Sasson, Chana Vinkler, et al.
Prenatal Diagnosis|June 16, 2021
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingTova Wagner, Duha Fahham, Ayala Frumkin, et al.
American Journal of Medical Genetics. Part A|May 30, 2025
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing SynpolydactylyJonathan Rips, Rivka Birnbaum, Chaim Jalas, et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics|November 1, 2019
Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancyHagit Daum, Ayala Frumkin, Vardiella Meiner, et al.
Neurogenetics|October 23, 2014
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A geneRuth Sheffer, Odeya Bennett-Back, Barak Yaacov, et al.
Journal of Medical Genetics|March 10, 2022
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcomeHagit Daum, Reeval Segel, Vardiella Meiner, et al.
Obstetrics and Gynecology|December 7, 2019
Information Women Choose to Receive About Prenatal Chromosomal Microarray AnalysisHagit Hochner, Hagit Daum, Liza Douiev, et al.
Pageof 4