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Journal of Medical Genetics
|
September 13, 2005
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
M A Parisi, D Doherty, M L Eckert, et al.
BMC Cancer
|
December 13, 2023
Registry-derived stage (RD-Stage) for capturing cancer stage at diagnosis for endometrial cancer
S M Evans, K Ivanova, R Rome, et al.
Molecular Genetics and Metabolism
|
May 3, 2016
Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions
Elsa Shapiro, Jessica Bernstein, Heather R Adams, et al.
International Journal of Food Microbiology
|
December 25, 2004
Coagulase-positive Staphylococci and Staphylococcus aureus in food products marketed in Italy
G Normanno, A Firinu, S Virgilio, et al.
Journal of Medical Genetics
|
January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
Journal of Medical Genetics
|
January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, et al.
ESMO Open
|
February 15, 2023
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature
A Boutros, A Bottini, G Rossi, et al.
European Journal of Medical Genetics
|
October 7, 2024
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
Faye H Chen, Adam L Hartman, Mary Catherine V Letinturier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux, Daniel A Doherty, Ian A Glass, et al.
ESMO Open
|
June 13, 2022
Encorafenib plus cetuximab with or without binimetinib in patients with BRAF V600E-mutated metastatic colorectal cancer: real-life data from an Italian multicenter experience
A Boccaccino, B Borelli, R Intini, et al.
Page
of 33
Search research articles
Search
Showing results (291-300 of 322) with videos related to
Sort By:
Page
of 33
Journal of Medical Genetics
|
September 13, 2005
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
M A Parisi, D Doherty, M L Eckert, et al.
BMC Cancer
|
December 13, 2023
Registry-derived stage (RD-Stage) for capturing cancer stage at diagnosis for endometrial cancer
S M Evans, K Ivanova, R Rome, et al.
Molecular Genetics and Metabolism
|
May 3, 2016
Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions
Elsa Shapiro, Jessica Bernstein, Heather R Adams, et al.
International Journal of Food Microbiology
|
December 25, 2004
Coagulase-positive Staphylococci and Staphylococcus aureus in food products marketed in Italy
G Normanno, A Firinu, S Virgilio, et al.
Journal of Medical Genetics
|
January 14, 2012
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Ruxandra Bachmann-Gagescu, Gisele E Ishak, Jennifer C Dempsey, et al.
Journal of Medical Genetics
|
January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, et al.
ESMO Open
|
February 15, 2023
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature
A Boutros, A Bottini, G Rossi, et al.
European Journal of Medical Genetics
|
October 7, 2024
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
Faye H Chen, Adam L Hartman, Mary Catherine V Letinturier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux, Daniel A Doherty, Ian A Glass, et al.
ESMO Open
|
June 13, 2022
Encorafenib plus cetuximab with or without binimetinib in patients with BRAF V600E-mutated metastatic colorectal cancer: real-life data from an Italian multicenter experience
A Boccaccino, B Borelli, R Intini, et al.
Page
of 33