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The Journal of Experimental Medicine
|
August 27, 2020
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling
Carine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, et al.
Journal of Human Genetics
|
July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
Boudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.
Bone
|
October 14, 2018
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease
Mohammad Shboul, Paul Roschger, Rudolf Ganger, et al.
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.
Molecular Genetics & Genomic Medicine
|
November 19, 2024
Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing
Wei Cheng David Kuek, Chean Nee Chai, Wei Ming Jason Tham, et al.
Stem Cell Reports
|
February 28, 2017
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells
Xiaohong Xu, Yilin Tay, Bernice Sim, et al.
Scientific Reports
|
March 5, 2025
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese
Tina Si Ting Lim, Chee Teck Koh, Judith Savige, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
March 4, 2024
A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Zhentang Lao, Ling-Wen Ding, Qiao-Yang Sun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 14, 2023
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
Christian A E Westrip, Franziska Paul, Fathiya Al-Murshedi, et al.
Human Molecular Genetics
|
October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish
Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.
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Search research articles
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Showing results (31-40 of 52) with videos related to
Sort By:
Page
of 6
The Journal of Experimental Medicine
|
August 27, 2020
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling
Carine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, et al.
Journal of Human Genetics
|
July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
Boudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.
Bone
|
October 14, 2018
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease
Mohammad Shboul, Paul Roschger, Rudolf Ganger, et al.
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.
Molecular Genetics & Genomic Medicine
|
November 19, 2024
Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing
Wei Cheng David Kuek, Chean Nee Chai, Wei Ming Jason Tham, et al.
Stem Cell Reports
|
February 28, 2017
Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells
Xiaohong Xu, Yilin Tay, Bernice Sim, et al.
Scientific Reports
|
March 5, 2025
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese
Tina Si Ting Lim, Chee Teck Koh, Judith Savige, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
March 4, 2024
A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy
Zhentang Lao, Ling-Wen Ding, Qiao-Yang Sun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 14, 2023
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
Christian A E Westrip, Franziska Paul, Fathiya Al-Murshedi, et al.
Human Molecular Genetics
|
October 10, 2023
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish
Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, et al.
Page
of 6