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HGG Advances
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June 26, 2026
Expanding the ABCA2-associated neurodevelopmental phenotype
Kaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.
Human Molecular Genetics
|
September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
The Journal of Trauma and Acute Care Surgery
|
March 17, 2020
Prospective validation of the Emergency Surgery Score in emergency general surgery: An Eastern Association for the Surgery of Trauma multicenter study
Haytham M A Kaafarani, Napaporn Kongkaewpaisan, Brittany O Aicher, et al.
The American Surgeon
|
March 11, 2022
Validation of the American Association for the Surgery of Trauma Emergency General Surgery Grading System for Colorectal Resection: An EAST Multicenter Study
Brittany O Aicher, Alejandro Betancourt-Ramirez, Michael D Grossman, et al.
The Journal of Trauma and Acute Care Surgery
|
September 5, 2020
Colorectal resection in emergency general surgery: An EAST multicenter trial
Brittany O Aicher, Matthew C Hernandez, Alejandro Betancourt-Ramirez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
Human Genetics
|
December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2023
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsy
Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
The Journal of Clinical Investigation
|
June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Michelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 69) with videos related to
Sort By:
Page
of 7
HGG Advances
|
June 26, 2026
Expanding the ABCA2-associated neurodevelopmental phenotype
Kaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.
Human Molecular Genetics
|
September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
The Journal of Trauma and Acute Care Surgery
|
March 17, 2020
Prospective validation of the Emergency Surgery Score in emergency general surgery: An Eastern Association for the Surgery of Trauma multicenter study
Haytham M A Kaafarani, Napaporn Kongkaewpaisan, Brittany O Aicher, et al.
The American Surgeon
|
March 11, 2022
Validation of the American Association for the Surgery of Trauma Emergency General Surgery Grading System for Colorectal Resection: An EAST Multicenter Study
Brittany O Aicher, Alejandro Betancourt-Ramirez, Michael D Grossman, et al.
The Journal of Trauma and Acute Care Surgery
|
September 5, 2020
Colorectal resection in emergency general surgery: An EAST multicenter trial
Brittany O Aicher, Matthew C Hernandez, Alejandro Betancourt-Ramirez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
Human Genetics
|
December 20, 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2023
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsy
Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
The Journal of Clinical Investigation
|
June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Michelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
Page
of 7