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European Journal of Human Genetics : EJHG
|
April 23, 2015
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
Robert Brown, Hane Lee, Ascia Eskin, et al.
Elife
|
July 7, 2023
The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death
Eva Hasel de Carvalho, Shivani S Dharmadhikari, Kateryna Shkarina, et al.
Clinical Neurology and Neurosurgery
|
December 17, 2019
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan
Amira Masri, Mohammad Shboul, Aisha Khasawneh, et al.
Development (Cambridge, England)
|
October 3, 2022
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism
Hyuk Nam Kwon, Kristen Kurtzeborn, Vladislav Iaroshenko, et al.
Nature Communications
|
June 23, 2022
HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring
Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S Vijayakar, et al.
Respirology Case Reports
|
October 31, 2024
Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia
Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, et al.
Elife
|
April 24, 2020
R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors
Valerie Pi Vidal, Fariba Jian-Motamedi, Samah Rekima, et al.
Archives of Iranian Medicine
|
February 4, 2016
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
Abbas Tafakhori, Alvin Yu Jin Ng, Sumanty Tohari, et al.
Developmental Cell
|
September 12, 2017
Alternative Progenitor Cells Compensate to Rebuild the Coronary Vasculature in Elabela- and Apj-Deficient Hearts
Bikram Sharma, Lena Ho, Gretchen Hazel Ford, et al.
Elife
|
September 30, 2016
Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafish
Mireia Perez-Camps, Jing Tian, Serene C Chng, et al.
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of 14
Search research articles
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Showing results (21-30 of 134) with videos related to
Sort By:
Page
of 14
European Journal of Human Genetics : EJHG
|
April 23, 2015
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
Robert Brown, Hane Lee, Ascia Eskin, et al.
Elife
|
July 7, 2023
The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death
Eva Hasel de Carvalho, Shivani S Dharmadhikari, Kateryna Shkarina, et al.
Clinical Neurology and Neurosurgery
|
December 17, 2019
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan
Amira Masri, Mohammad Shboul, Aisha Khasawneh, et al.
Development (Cambridge, England)
|
October 3, 2022
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism
Hyuk Nam Kwon, Kristen Kurtzeborn, Vladislav Iaroshenko, et al.
Nature Communications
|
June 23, 2022
HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring
Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S Vijayakar, et al.
Respirology Case Reports
|
October 31, 2024
Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia
Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, et al.
Elife
|
April 24, 2020
R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors
Valerie Pi Vidal, Fariba Jian-Motamedi, Samah Rekima, et al.
Archives of Iranian Medicine
|
February 4, 2016
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
Abbas Tafakhori, Alvin Yu Jin Ng, Sumanty Tohari, et al.
Developmental Cell
|
September 12, 2017
Alternative Progenitor Cells Compensate to Rebuild the Coronary Vasculature in Elabela- and Apj-Deficient Hearts
Bikram Sharma, Lena Ho, Gretchen Hazel Ford, et al.
Elife
|
September 30, 2016
Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafish
Mireia Perez-Camps, Jing Tian, Serene C Chng, et al.
Page
of 14