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Orsetta Zuffardi

Showing results (201-210 of 222) with videos related to

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Nature Communications|October 30, 2022
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, et al.
The New England Journal of Medicine|February 28, 2014
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndromeFelix Beuschlein, Martin Fassnacht, Guillaume Assié, et al.
Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.
Human Genetics|October 3, 2018
De novo unbalanced translocations have a complex history/aetiologyMaria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, et al.
Molecular Cell|November 19, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Pageof 23

Showing results (201-210 of 222) with videos related to

Sort By:
Pageof 23
Nature Communications|October 30, 2022
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, et al.
The New England Journal of Medicine|February 28, 2014
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndromeFelix Beuschlein, Martin Fassnacht, Guillaume Assié, et al.
Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.
Human Genetics|October 3, 2018
De novo unbalanced translocations have a complex history/aetiologyMaria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, et al.
Molecular Cell|November 19, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Pageof 23