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American Journal of Medical Genetics. Part A
|
April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
JBMR Plus
|
March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndrome
Yunyun Jiang, Michael F Wangler, Amy L McGuire, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2018
Phenotypic expansion illuminates multilocus pathogenic variation
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, et al.
Frontiers in Pediatrics
|
August 17, 2019
Novel Heterozygous Mutation in <i>NFKB2</i> Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
Alejandra Aird, Macarena Lagos, Alexander Vargas-Hernández, et al.
Parkinsonism & Related Disorders
|
December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Olivia J Rickman, Claire G Salter, Adam C Gunning, et al.
Cell Reports
|
January 15, 2025
The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity
Luis A Pedroza, Frederique van den Haak, Alexander Frumovitz, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Risk of sudden cardiac death in EXOSC5-related disease
Daniel G Calame, Isabella Herman, Jawid M Fatih, et al.
American Journal of Medical Genetics. Part A
|
March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, et al.
Annals of Clinical and Translational Neurology
|
August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Jaya Punetha, Ender Karaca, Alper Gezdirici, et al.
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Search research articles
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Showing results (41-50 of 195) with videos related to
Sort By:
Page
of 20
American Journal of Medical Genetics. Part A
|
April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
JBMR Plus
|
March 13, 2020
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
Shan Chen, Mahim Jain, Shalini Jhangiani, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndrome
Yunyun Jiang, Michael F Wangler, Amy L McGuire, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 24, 2018
Phenotypic expansion illuminates multilocus pathogenic variation
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, et al.
Frontiers in Pediatrics
|
August 17, 2019
Novel Heterozygous Mutation in <i>NFKB2</i> Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
Alejandra Aird, Macarena Lagos, Alexander Vargas-Hernández, et al.
Parkinsonism & Related Disorders
|
December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Olivia J Rickman, Claire G Salter, Adam C Gunning, et al.
Cell Reports
|
January 15, 2025
The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity
Luis A Pedroza, Frederique van den Haak, Alexander Frumovitz, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Risk of sudden cardiac death in EXOSC5-related disease
Daniel G Calame, Isabella Herman, Jawid M Fatih, et al.
American Journal of Medical Genetics. Part A
|
March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, et al.
Annals of Clinical and Translational Neurology
|
August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Jaya Punetha, Ender Karaca, Alper Gezdirici, et al.
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of 20