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T Gordon

Showing results (661-670 of 700) with videos related to

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G3 (Bethesda, Md.)|October 13, 2017
Transcriptomic Analysis of Octanoic Acid Response in <i>Drosophila sechellia</i> Using RNA-SequencingStephen M Lanno, Sara M Gregory, Serena J Shimshak, et al.
American Journal of Human Genetics|April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndromeAlexander G Marneros, Anita E Beck, Emily H Turner, et al.
Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 11, 2024
The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndromeElise Pisan, Chiara De Luca, Francesco Brancati, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
Pageof 70

Showing results (661-670 of 700) with videos related to

Sort By:
Pageof 70
G3 (Bethesda, Md.)|October 13, 2017
Transcriptomic Analysis of Octanoic Acid Response in <i>Drosophila sechellia</i> Using RNA-SequencingStephen M Lanno, Sara M Gregory, Serena J Shimshak, et al.
American Journal of Human Genetics|April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndromeAlexander G Marneros, Anita E Beck, Emily H Turner, et al.
Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 11, 2024
The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndromeElise Pisan, Chiara De Luca, Francesco Brancati, et al.
Nature Communications|February 22, 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability SyndromeElizabeth A Werren, Geneva R LaForce, Anshika Srivastava, et al.
American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
Pageof 70