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Blood Cells, Molecules & Diseases
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December 20, 2020
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes
Marlène Le Tertre, Chandran Ka, Loann Raud, et al.
Neurogenetics
|
August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
Human Genomics
|
August 16, 2022
Expanding ACMG variant classification guidelines into a general framework
Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Blood Transfusion = Trasfusione Del Sangue
|
December 2, 2020
Molecular characterization of rare D--/D-- variants in individuals of Indian origin
Swati Kulkarni, Garima Mishra, Harita Maru, et al.
Transfusion
|
June 3, 2026
Investigating the molecular basis of the serological Rh D-negative phenotype in Indonesia: nature, frequency, and impact for diagnostics
Tonny Wongso, Teguh Triyono, Caroline Bénech, et al.
American Journal of Human Genetics
|
August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges
Yuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.
Physical Review Letters
|
March 12, 2021
Diffusivelike Motions in a Solvent-Free Protein-Polymer Hybrid
Giorgio Schirò, Yann Fichou, Alex P S Brogan, et al.
Nature Communications
|
March 17, 2015
Translational diffusion of hydration water correlates with functional motions in folded and intrinsically disordered proteins
Giorgio Schirò, Yann Fichou, Francois-Xavier Gallat, et al.
Human Genomics
|
February 27, 2024
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Hao Wu, Jin-Huan Lin, Xin-Ying Tang, et al.
Journal of the American Chemical Society
|
August 3, 2012
A polymer surfactant corona dynamically replaces water in solvent-free protein liquids and ensures macromolecular flexibility and activity
François-Xavier Gallat, Alex P S Brogan, Yann Fichou, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 96) with videos related to
Sort By:
Page
of 10
Blood Cells, Molecules & Diseases
|
December 20, 2020
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes
Marlène Le Tertre, Chandran Ka, Loann Raud, et al.
Neurogenetics
|
August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
Human Genomics
|
August 16, 2022
Expanding ACMG variant classification guidelines into a general framework
Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Blood Transfusion = Trasfusione Del Sangue
|
December 2, 2020
Molecular characterization of rare D--/D-- variants in individuals of Indian origin
Swati Kulkarni, Garima Mishra, Harita Maru, et al.
Transfusion
|
June 3, 2026
Investigating the molecular basis of the serological Rh D-negative phenotype in Indonesia: nature, frequency, and impact for diagnostics
Tonny Wongso, Teguh Triyono, Caroline Bénech, et al.
American Journal of Human Genetics
|
August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges
Yuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.
Physical Review Letters
|
March 12, 2021
Diffusivelike Motions in a Solvent-Free Protein-Polymer Hybrid
Giorgio Schirò, Yann Fichou, Alex P S Brogan, et al.
Nature Communications
|
March 17, 2015
Translational diffusion of hydration water correlates with functional motions in folded and intrinsically disordered proteins
Giorgio Schirò, Yann Fichou, Francois-Xavier Gallat, et al.
Human Genomics
|
February 27, 2024
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Hao Wu, Jin-Huan Lin, Xin-Ying Tang, et al.
Journal of the American Chemical Society
|
August 3, 2012
A polymer surfactant corona dynamically replaces water in solvent-free protein liquids and ensures macromolecular flexibility and activity
François-Xavier Gallat, Alex P S Brogan, Yann Fichou, et al.
Page
of 10