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Teresa Santiago-Sim

Showing results (1-10 of 20) with videos related to

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Progress in Transplantation (Aliso Viejo, Calif.)|August 11, 2012
Introduction to genetic processes in transplantationTeresa Santiago-Sim, Sarah Colosimo, David J Powner
Stroke|December 10, 2008
Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13qTeresa Santiago-Sim, Steven R Depalma, Kevin L Ju, et al.
Stroke|March 21, 2009
Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysmTeresa Santiago-Sim, Sumy Mathew-Joseph, Hariyadarshi Pannu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalitiesLot Snijders Blok, Arianna Vino, Joery den Hoed, et al.
HGG Advances|January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delayDianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
Molecular Brain|November 21, 2015
Regulated internalization of NMDA receptors drives PKD1-mediated suppression of the activity of residual cell-surface NMDA receptorsXiao-Qian Fang, Haifa Qiao, Bradley R Groveman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Stroke|November 30, 2016
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid HemorrhageTeresa Santiago-Sim, Xiaoqian Fang, Morgan L Hennessy, et al.
Brain : a Journal of Neurology|October 11, 2021
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsyPhilip K Ahring, Vivian W Y Liao, Elena Gardella, et al.
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Progress in Transplantation (Aliso Viejo, Calif.)|August 11, 2012
Introduction to genetic processes in transplantationTeresa Santiago-Sim, Sarah Colosimo, David J Powner
Stroke|December 10, 2008
Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13qTeresa Santiago-Sim, Steven R Depalma, Kevin L Ju, et al.
Stroke|March 21, 2009
Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysmTeresa Santiago-Sim, Sumy Mathew-Joseph, Hariyadarshi Pannu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalitiesLot Snijders Blok, Arianna Vino, Joery den Hoed, et al.
HGG Advances|January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delayDianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
Molecular Brain|November 21, 2015
Regulated internalization of NMDA receptors drives PKD1-mediated suppression of the activity of residual cell-surface NMDA receptorsXiao-Qian Fang, Haifa Qiao, Bradley R Groveman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Stroke|November 30, 2016
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid HemorrhageTeresa Santiago-Sim, Xiaoqian Fang, Morgan L Hennessy, et al.
Brain : a Journal of Neurology|October 11, 2021
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsyPhilip K Ahring, Vivian W Y Liao, Elena Gardella, et al.
EMBO Molecular Medicine|April 14, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulationReini E N van der Welle, Rebekah Jobling, Christian Burns, et al.
Pageof 2