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American Journal of Human Genetics
|
December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
Communications Biology
|
July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model
Yeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
International Journal of Radiation Oncology, Biology, Physics
|
October 1, 1996
Tumor perfusion studies using fast magnetic resonance imaging technique in advanced cervical cancer: a new noninvasive predictive assay
N A Mayr, W T Yuh, V A Magnotta, et al.
Life Sciences
|
May 30, 2025
The impact of preexisting omega-3 fatty acid serum levels on outcomes following out-of-hospital cardiac arrest: A comprehensive investigation
J Grabert, G Mohsen, C Diepenseifen, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Brain : a Journal of Neurology
|
December 15, 2015
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, et al.
EMBO Molecular Medicine
|
March 14, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress
Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, et al.
American Journal of Human Genetics
|
January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
Johannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Nature Communications
|
July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
American Journal of Clinical Oncology
|
July 1, 2014
ACR appropriateness Criteria® advanced stage endometrial cancer
Mohamed A Elshaikh, Catheryn M Yashar, Aaron H Wolfson, et al.
Page
of 56
Search research articles
Search
Showing results (451-460 of 555) with videos related to
Sort By:
Page
of 56
American Journal of Human Genetics
|
December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
Communications Biology
|
July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model
Yeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
International Journal of Radiation Oncology, Biology, Physics
|
October 1, 1996
Tumor perfusion studies using fast magnetic resonance imaging technique in advanced cervical cancer: a new noninvasive predictive assay
N A Mayr, W T Yuh, V A Magnotta, et al.
Life Sciences
|
May 30, 2025
The impact of preexisting omega-3 fatty acid serum levels on outcomes following out-of-hospital cardiac arrest: A comprehensive investigation
J Grabert, G Mohsen, C Diepenseifen, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Brain : a Journal of Neurology
|
December 15, 2015
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, et al.
EMBO Molecular Medicine
|
March 14, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress
Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, et al.
American Journal of Human Genetics
|
January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
Johannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Nature Communications
|
July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
American Journal of Clinical Oncology
|
July 1, 2014
ACR appropriateness Criteria® advanced stage endometrial cancer
Mohamed A Elshaikh, Catheryn M Yashar, Aaron H Wolfson, et al.
Page
of 56