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Bruno Reversade

Showing results (61-70 of 134) with videos related to

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American Journal of Medical Genetics. Part A|July 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|March 15, 2021
A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental DefectsGeetika Sahni, Shu-Yung Chang, Jeremy Teo Choon Meng, et al.
American Journal of Medical Genetics. Part A|February 25, 2022
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndromeAbigail Y T Loh, Sanja Špoljar, Granville Y W Neo, et al.
Elife|May 23, 2018
A homozygous loss-of-function <i>CAMK2A</i> mutation causes growth delay, frequent seizures and severe intellectual disabilityPoh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, et al.
Neuron|April 25, 2020
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2Nathalie Escande-Beillard, Abigail Loh, Sahar N Saleem, et al.
Science (New York, N.Y.)|October 23, 2020
Enteroviral 3C protease activates the human NLRP1 inflammasome in airway epitheliaKim S Robinson, Daniel Eng Thiam Teo, Kai Sen Tan, et al.
Developmental Cell|June 9, 2022
R-SPONDIN2<sup>+</sup> mesenchymal cells form the bud tip progenitor niche during human lung developmentRenee F C Hein, Joshua H Wu, Emily M Holloway, et al.
Science (New York, N.Y.)|July 1, 2017
ELABELA deficiency promotes preeclampsia and cardiovascular malformations in miceLena Ho, Marie van Dijk, Sam Tan Jian Chye, et al.
Cell Stem Cell|September 22, 2015
ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT PathwayLena Ho, Shawn Y X Tan, Sheena Wee, et al.
Rheumatology (Oxford, England)|February 16, 2021
IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblastsEleonora Adami, Sivakumar Viswanathan, Anissa A Widjaja, et al.
Pageof 14

Showing results (61-70 of 134) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|July 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|March 15, 2021
A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental DefectsGeetika Sahni, Shu-Yung Chang, Jeremy Teo Choon Meng, et al.
American Journal of Medical Genetics. Part A|February 25, 2022
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndromeAbigail Y T Loh, Sanja Špoljar, Granville Y W Neo, et al.
Elife|May 23, 2018
A homozygous loss-of-function <i>CAMK2A</i> mutation causes growth delay, frequent seizures and severe intellectual disabilityPoh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, et al.
Neuron|April 25, 2020
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2Nathalie Escande-Beillard, Abigail Loh, Sahar N Saleem, et al.
Science (New York, N.Y.)|October 23, 2020
Enteroviral 3C protease activates the human NLRP1 inflammasome in airway epitheliaKim S Robinson, Daniel Eng Thiam Teo, Kai Sen Tan, et al.
Developmental Cell|June 9, 2022
R-SPONDIN2<sup>+</sup> mesenchymal cells form the bud tip progenitor niche during human lung developmentRenee F C Hein, Joshua H Wu, Emily M Holloway, et al.
Science (New York, N.Y.)|July 1, 2017
ELABELA deficiency promotes preeclampsia and cardiovascular malformations in miceLena Ho, Marie van Dijk, Sam Tan Jian Chye, et al.
Cell Stem Cell|September 22, 2015
ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT PathwayLena Ho, Shawn Y X Tan, Sheena Wee, et al.
Rheumatology (Oxford, England)|February 16, 2021
IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblastsEleonora Adami, Sivakumar Viswanathan, Anissa A Widjaja, et al.
Pageof 14