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Human Mutation
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February 24, 2015
Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain
Désirée von Alpen, Hoai Viet Tran, Nicolas Guex, et al.
Molecular Endocrinology (Baltimore, Md.)
|
July 3, 2004
Altered growth in male peroxisome proliferator-activated receptor gamma (PPARgamma) heterozygous mice: involvement of PPARgamma in a negative feedback regulation of growth hormone action
Jennifer Rieusset, Josiane Seydoux, Silvia I Anghel, et al.
JACC. Case Reports
|
July 18, 2025
Multimodal Imaging Evaluation of Myocardial Involvement in Rare Oculoleptomeningeal Hereditary Transthyretin Amyloidosis
Moritz J Hundertmark, Martin Zinkernagel, Tatiana Brémova-Ertl, et al.
Developmental Biology
|
May 29, 2017
The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning
Ana Maria Olivares, Yinan Han, David Soto, et al.
The Journal of Biological Chemistry
|
June 11, 2004
The direct peroxisome proliferator-activated receptor target fasting-induced adipose factor (FIAF/PGAR/ANGPTL4) is present in blood plasma as a truncated protein that is increased by fenofibrate treatment
Stéphane Mandard, Fokko Zandbergen, Nguan Soon Tan, et al.
American Journal of Human Genetics
|
February 10, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
Bozena Polok, Pascal Escher, Aude Ambresin, et al.
The Biochemical Journal
|
August 10, 2005
The G0/G1 switch gene 2 is a novel PPAR target gene
Fokko Zandbergen, Stéphane Mandard, Pascal Escher, et al.
The Journal of Clinical Investigation
|
July 3, 2004
PPARalpha governs glycerol metabolism
David Patsouris, Stéphane Mandard, Peter J Voshol, et al.
Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
|
April 1, 2025
Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype
Nastasia Foa, Maximilian Pfau, Georg Ansari, et al.
Cornea
|
September 1, 2021
c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1
Lucas Janeschitz-Kriegl, Dhryata Kamdar, Mathieu Quinodoz, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 48) with videos related to
Sort By:
Page
of 5
Human Mutation
|
February 24, 2015
Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain
Désirée von Alpen, Hoai Viet Tran, Nicolas Guex, et al.
Molecular Endocrinology (Baltimore, Md.)
|
July 3, 2004
Altered growth in male peroxisome proliferator-activated receptor gamma (PPARgamma) heterozygous mice: involvement of PPARgamma in a negative feedback regulation of growth hormone action
Jennifer Rieusset, Josiane Seydoux, Silvia I Anghel, et al.
JACC. Case Reports
|
July 18, 2025
Multimodal Imaging Evaluation of Myocardial Involvement in Rare Oculoleptomeningeal Hereditary Transthyretin Amyloidosis
Moritz J Hundertmark, Martin Zinkernagel, Tatiana Brémova-Ertl, et al.
Developmental Biology
|
May 29, 2017
The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning
Ana Maria Olivares, Yinan Han, David Soto, et al.
The Journal of Biological Chemistry
|
June 11, 2004
The direct peroxisome proliferator-activated receptor target fasting-induced adipose factor (FIAF/PGAR/ANGPTL4) is present in blood plasma as a truncated protein that is increased by fenofibrate treatment
Stéphane Mandard, Fokko Zandbergen, Nguan Soon Tan, et al.
American Journal of Human Genetics
|
February 10, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
Bozena Polok, Pascal Escher, Aude Ambresin, et al.
The Biochemical Journal
|
August 10, 2005
The G0/G1 switch gene 2 is a novel PPAR target gene
Fokko Zandbergen, Stéphane Mandard, Pascal Escher, et al.
The Journal of Clinical Investigation
|
July 3, 2004
PPARalpha governs glycerol metabolism
David Patsouris, Stéphane Mandard, Peter J Voshol, et al.
Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
|
April 1, 2025
Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype
Nastasia Foa, Maximilian Pfau, Georg Ansari, et al.
Cornea
|
September 1, 2021
c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1
Lucas Janeschitz-Kriegl, Dhryata Kamdar, Mathieu Quinodoz, et al.
Page
of 5