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Cold Spring Harbor Molecular Case Studies
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October 10, 2023
Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary system
Swetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.
Frontiers in Genetics
|
February 2, 2024
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2024
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome
Erica L Macke, Anthony R Miller, Caitlyn M Colwell, et al.
Micropublication Biology
|
April 14, 2021
Genetic Mapping of a new <i>Hippo</i> allele, <i>Hpo</i> in <i>Drosophila melanogaster</i>
Jamie L Siders, Kayla L Bieser, Danielle R Hamill, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Cold Spring Harbor Molecular Case Studies
|
October 10, 2023
Novel inherited <i>CDX2</i> variant segregating in a family with diverse congenital malformations of the genitourinary system
Swetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.
Frontiers in Genetics
|
February 2, 2024
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2024
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome
Erica L Macke, Anthony R Miller, Caitlyn M Colwell, et al.
Micropublication Biology
|
April 14, 2021
Genetic Mapping of a new <i>Hippo</i> allele, <i>Hpo</i> in <i>Drosophila melanogaster</i>
Jamie L Siders, Kayla L Bieser, Danielle R Hamill, et al.
Page
of 1