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Metabolism: Clinical and Experimental
|
September 10, 2015
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies
Frederic Reinier, Magdalena Zoledziewska, David Hanna, et al.
Nature Genetics
|
September 19, 2018
Genomic history of the Sardinian population
Charleston W K Chiang, Joseph H Marcus, Carlo Sidore, et al.
Journal of Human Genetics
|
October 14, 2016
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, et al.
International Journal of Molecular Sciences
|
August 23, 2019
Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma
Andrea Angius, Paolo Uva, Giovanna Pira, et al.
International Journal of Medical Sciences
|
November 2, 2019
MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers
Andrea Angius, Giovanna Pira, Antonio Mario Scanu, et al.
BMC Medical Genetics
|
January 16, 2019
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
Rita Maria Alves, Paolo Uva, Marielza F Veiga, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
April 2, 2015
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
Eleonora Palagano, Harry C Blair, Alessandra Pangrazio, et al.
Clinical Genetics
|
March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
Andrea Angius, Paolo Uva, Manuela Oppo, et al.
Neurobiology of Disease
|
June 7, 2026
PBMC DEG/miRNA biomarkers of TDP-43 pathology in ALS
Maria Francesca Manchinu, Michela Congiu, Matteo Massidda, et al.
The New England Journal of Medicine
|
July 31, 2009
Loss of mismatched HLA in leukemia after stem-cell transplantation
Luca Vago, Serena Kimi Perna, Monica Zanussi, et al.
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of 8
Search research articles
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Showing results (51-60 of 75) with videos related to
Sort By:
Page
of 8
Metabolism: Clinical and Experimental
|
September 10, 2015
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies
Frederic Reinier, Magdalena Zoledziewska, David Hanna, et al.
Nature Genetics
|
September 19, 2018
Genomic history of the Sardinian population
Charleston W K Chiang, Joseph H Marcus, Carlo Sidore, et al.
Journal of Human Genetics
|
October 14, 2016
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, et al.
International Journal of Molecular Sciences
|
August 23, 2019
Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma
Andrea Angius, Paolo Uva, Giovanna Pira, et al.
International Journal of Medical Sciences
|
November 2, 2019
MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers
Andrea Angius, Giovanna Pira, Antonio Mario Scanu, et al.
BMC Medical Genetics
|
January 16, 2019
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
Rita Maria Alves, Paolo Uva, Marielza F Veiga, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
April 2, 2015
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
Eleonora Palagano, Harry C Blair, Alessandra Pangrazio, et al.
Clinical Genetics
|
March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
Andrea Angius, Paolo Uva, Manuela Oppo, et al.
Neurobiology of Disease
|
June 7, 2026
PBMC DEG/miRNA biomarkers of TDP-43 pathology in ALS
Maria Francesca Manchinu, Michela Congiu, Matteo Massidda, et al.
The New England Journal of Medicine
|
July 31, 2009
Loss of mismatched HLA in leukemia after stem-cell transplantation
Luca Vago, Serena Kimi Perna, Monica Zanussi, et al.
Page
of 8