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Showing results (751-760 of 760) with videos related to

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Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Heart Rhythm O2|July 30, 2025
Countrywide introduction of pulsed field ablation for the treatment of atrial fibrillation: Acute results from the FRANCE-PFA registryCorentin Chaumont, Mikael Laredo, Olivier Thomas, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Archives of Disease in Childhood|August 22, 2020
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical ManagementNeha S Bhatia, Jiin Ying Lim, Carine Bonnard, et al.
JACC. Clinical Electrophysiology|November 20, 2025
Characterizing Sustained Arrhythmias in Patients With Arrhythmic Mitral Valve Prolapse: Insights From the SAVE-MVP collaborationAvi Sabbag, Nina Ajmone-Marsan, Fatima Ezzeddine, et al.
Research Square|July 28, 2023
A nitroalkene derivative of salicylate alleviates diet-induced obesity by activating creatine metabolism and non-shivering thermogenesisKarina Cal, Alejandro Leyva, Jorge Rodríguez-Duarte, et al.
Nature Communications|February 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al.
Nature Metabolism|June 17, 2025
A nitroalkene derivative of salicylate, SANA, induces creatine-dependent thermogenesis and promotes weight lossKarina Cal, Alejandro Leyva, Jorge Rodríguez-Duarte, et al.
Pageof 76

Showing results (751-760 of 760) with videos related to

Sort By:
Pageof 76
You have reached the last page of results.This site can display upto 760 results.
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Heart Rhythm O2|July 30, 2025
Countrywide introduction of pulsed field ablation for the treatment of atrial fibrillation: Acute results from the FRANCE-PFA registryCorentin Chaumont, Mikael Laredo, Olivier Thomas, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
Archives of Disease in Childhood|August 22, 2020
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical ManagementNeha S Bhatia, Jiin Ying Lim, Carine Bonnard, et al.
JACC. Clinical Electrophysiology|November 20, 2025
Characterizing Sustained Arrhythmias in Patients With Arrhythmic Mitral Valve Prolapse: Insights From the SAVE-MVP collaborationAvi Sabbag, Nina Ajmone-Marsan, Fatima Ezzeddine, et al.
Research Square|July 28, 2023
A nitroalkene derivative of salicylate alleviates diet-induced obesity by activating creatine metabolism and non-shivering thermogenesisKarina Cal, Alejandro Leyva, Jorge Rodríguez-Duarte, et al.
Nature Communications|February 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulationMarwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, et al.
Nature Metabolism|June 17, 2025
A nitroalkene derivative of salicylate, SANA, induces creatine-dependent thermogenesis and promotes weight lossKarina Cal, Alejandro Leyva, Jorge Rodríguez-Duarte, et al.
Pageof 76