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Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET
Yuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Journal of Human Genetics
|
September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.
American Journal of Human Genetics
|
January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Baresic, Ivan K Chinn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)
Sally Nijim, Mimi Kim, Melissa Denish, et al.
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of 5
Search research articles
Search
Showing results (41-50 of 45) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 45 results.
Human Mutation
|
July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET
Yuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Journal of Human Genetics
|
September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.
American Journal of Human Genetics
|
January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Baresic, Ivan K Chinn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)
Sally Nijim, Mimi Kim, Melissa Denish, et al.
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of 5