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A Zarate

Showing results (571-580 of 606) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Molecular Psychiatry|September 7, 2022
International pooled patient-level meta-analysis of ketamine infusion for depression: In search of clinical moderatorsRebecca B Price, Nicholas Kissel, Andrew Baumeister, et al.
Clinical Pharmacology and Therapeutics|July 26, 2024
A Phase 1 Assessment of the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of (2R,6R)-Hydroxynorketamine in Healthy VolunteersShruti M Raja, Jeffrey T Guptill, Michelle Mack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
Pageof 61

Showing results (571-580 of 606) with videos related to

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Pageof 61
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Molecular Psychiatry|September 7, 2022
International pooled patient-level meta-analysis of ketamine infusion for depression: In search of clinical moderatorsRebecca B Price, Nicholas Kissel, Andrew Baumeister, et al.
Clinical Pharmacology and Therapeutics|July 26, 2024
A Phase 1 Assessment of the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of (2R,6R)-Hydroxynorketamine in Healthy VolunteersShruti M Raja, Jeffrey T Guptill, Michelle Mack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
Pageof 61