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Journal of Inherited Metabolic Disease
|
November 1, 2013
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
Steffi van de Ven, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Molecular Genetics and Metabolism
|
March 28, 2025
The role of large language models in medical genetics
Rona Merdler-Rabinowicz, Mahmud Omar, Jaya Ganesh, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2023
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation
Rameen Shah, Christin Johnsen, Beth A Pletcher, et al.
Clinical Dysmorphology
|
July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia
Eva Morava, Oliver Bartsch, Márta Czakó, et al.
Clinical Dysmorphology
|
June 11, 2008
Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay
Saskia Koene, Leo A J Kluijtmans, Ron Wevers, et al.
Journal of Inherited Metabolic Disease
|
August 3, 2023
Risk and potential of ChatGPT in scientific publishing
Verena Peters, Matthias Baumgartner, Sean Froese, et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
|
July 28, 2004
Screening for CDG type Ia in Joubert syndrome
Eva Morava, Beatrix Cser, Judit Kárteszi, et al.
JIMD Reports
|
April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Saskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.
Journal of Inherited Metabolic Disease
|
April 3, 2016
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
Johannes Zschocke, Matthias R Baumgartner, Eva Morava, et al.
International Journal of Laboratory Hematology
|
August 10, 2022
In special coagulation, think horses not zebras: A clotted sample from a patient with congenital disorder of glycosylation
Abdulrahman Saadalla, Melissa Stuart, Aneel Ashrani, et al.
Page
of 36
Search research articles
Search
Showing results (91-100 of 355) with videos related to
Sort By:
Page
of 36
Journal of Inherited Metabolic Disease
|
November 1, 2013
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
Steffi van de Ven, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Molecular Genetics and Metabolism
|
March 28, 2025
The role of large language models in medical genetics
Rona Merdler-Rabinowicz, Mahmud Omar, Jaya Ganesh, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2023
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation
Rameen Shah, Christin Johnsen, Beth A Pletcher, et al.
Clinical Dysmorphology
|
July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia
Eva Morava, Oliver Bartsch, Márta Czakó, et al.
Clinical Dysmorphology
|
June 11, 2008
Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay
Saskia Koene, Leo A J Kluijtmans, Ron Wevers, et al.
Journal of Inherited Metabolic Disease
|
August 3, 2023
Risk and potential of ChatGPT in scientific publishing
Verena Peters, Matthias Baumgartner, Sean Froese, et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
|
July 28, 2004
Screening for CDG type Ia in Joubert syndrome
Eva Morava, Beatrix Cser, Judit Kárteszi, et al.
JIMD Reports
|
April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Saskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.
Journal of Inherited Metabolic Disease
|
April 3, 2016
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
Johannes Zschocke, Matthias R Baumgartner, Eva Morava, et al.
International Journal of Laboratory Hematology
|
August 10, 2022
In special coagulation, think horses not zebras: A clotted sample from a patient with congenital disorder of glycosylation
Abdulrahman Saadalla, Melissa Stuart, Aneel Ashrani, et al.
Page
of 36