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Digestive Diseases and Sciences
|
August 31, 2023
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
Federica Viti, Roberto De Giorgio, Isabella Ceccherini, et al.
European Journal of Endocrinology
|
June 3, 2010
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes
Cristina Romei, Stefano Mariotti, Laura Fugazzola, et al.
Plos Genetics
|
November 5, 2020
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Tanja Mederer, Stefanie Schmitteckert, Julia Volz, et al.
Human Molecular Genetics
|
October 6, 2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
Clara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, et al.
Annals of the Rheumatic Diseases
|
April 26, 2019
Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno, Michael Hofer, Silvia Federici, et al.
Neurogastroenterology and Motility
|
April 14, 2026
International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease
Pascal De Santa Barbara, Isabella Ceccherini, Robert O Heuckeroth, et al.
American Journal of Human Genetics
|
May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genome Biology
|
March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hongsheng Gui, Duco Schriemer, William W Cheng, et al.
Brain : a Journal of Neurology
|
April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
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Search research articles
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Showing results (171-180 of 180) with videos related to
Sort By:
Page
of 18
You have reached the last page of results.
This site can display upto 180 results.
Digestive Diseases and Sciences
|
August 31, 2023
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
Federica Viti, Roberto De Giorgio, Isabella Ceccherini, et al.
European Journal of Endocrinology
|
June 3, 2010
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes
Cristina Romei, Stefano Mariotti, Laura Fugazzola, et al.
Plos Genetics
|
November 5, 2020
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Tanja Mederer, Stefanie Schmitteckert, Julia Volz, et al.
Human Molecular Genetics
|
October 6, 2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
Clara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, et al.
Annals of the Rheumatic Diseases
|
April 26, 2019
Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno, Michael Hofer, Silvia Federici, et al.
Neurogastroenterology and Motility
|
April 14, 2026
International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease
Pascal De Santa Barbara, Isabella Ceccherini, Robert O Heuckeroth, et al.
American Journal of Human Genetics
|
May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genome Biology
|
March 10, 2017
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Hongsheng Gui, Duco Schriemer, William W Cheng, et al.
Brain : a Journal of Neurology
|
April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
Brain : a Journal of Neurology
|
May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
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of 18