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K G Tan

Showing results (61-70 of 195) with videos related to

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Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Kidney Medicine|January 30, 2023
Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicXin Yee Tan, Chloe Borden, Mary-Beth Roberts, et al.
American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
American Journal of Human Genetics|July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
Physical Review Letters|May 9, 2015
Search for Scalar Charm Quark Pair Production in pp Collisions at sqrt[s]=8  TeV with the ATLAS DetectorG Aad, B Abbott, J Abdallah, et al.
Pageof 20

Showing results (61-70 of 195) with videos related to

Sort By:
Pageof 20
Cold Spring Harbor Molecular Case Studies|July 5, 2018
Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresQueenie K-G Tan, Heidi Cope, Rebecca C Spillmann, et al.
Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Kidney Medicine|January 30, 2023
Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicXin Yee Tan, Chloe Borden, Mary-Beth Roberts, et al.
American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
American Journal of Human Genetics|July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
Physical Review Letters|May 9, 2015
Search for Scalar Charm Quark Pair Production in pp Collisions at sqrt[s]=8  TeV with the ATLAS DetectorG Aad, B Abbott, J Abdallah, et al.
Pageof 20