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JIMD Reports
|
January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in Greece
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.
Journal of Medical Genetics
|
March 28, 2024
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, et al.
Journal of Cardiothoracic and Vascular Anesthesia
|
June 16, 2021
Impact of a Modified Institutional Protocol on Outcomes After Extracorporeal Cardiopulmonary Resuscitation for Refractory Out-Of-Hospital Cardiac Arrest
Matteo Pozzi, Daniel Grinberg, Xavier Armoiry, et al.
European Journal of Endocrinology
|
December 3, 2005
Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation
Anna Enjuanes, Natalia Garcia-Giralt, August Supervía, et al.
Scientific Reports
|
July 21, 2018
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
Núria Martínez-Gil, Neus Roca-Ayats, Anna Monistrol-Mula, et al.
Bone
|
May 27, 2022
Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions
Diana Ovejero, Natalia Garcia-Giralt, Núria Martínez-Gil, et al.
European Journal of Heart Failure
|
December 15, 2021
Primary endpoint adjudication: comparison between the expert committee and the regulatory MedDRA® coding in the MITRA-FR study
Anthony Facile, Nathan Mewton, Marina Nguon, et al.
Human Mutation
|
June 20, 2003
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S
Roser Urreizti, Susana Balcells, Marga Rodés, et al.
Organic & Biomolecular Chemistry
|
April 13, 2017
Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, et al.
Organic & Biomolecular Chemistry
|
September 15, 2017
Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, et al.
Page
of 19
Search research articles
Search
Showing results (101-110 of 181) with videos related to
Sort By:
Page
of 19
JIMD Reports
|
January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in Greece
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.
Journal of Medical Genetics
|
March 28, 2024
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, et al.
Journal of Cardiothoracic and Vascular Anesthesia
|
June 16, 2021
Impact of a Modified Institutional Protocol on Outcomes After Extracorporeal Cardiopulmonary Resuscitation for Refractory Out-Of-Hospital Cardiac Arrest
Matteo Pozzi, Daniel Grinberg, Xavier Armoiry, et al.
European Journal of Endocrinology
|
December 3, 2005
Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation
Anna Enjuanes, Natalia Garcia-Giralt, August Supervía, et al.
Scientific Reports
|
July 21, 2018
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
Núria Martínez-Gil, Neus Roca-Ayats, Anna Monistrol-Mula, et al.
Bone
|
May 27, 2022
Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions
Diana Ovejero, Natalia Garcia-Giralt, Núria Martínez-Gil, et al.
European Journal of Heart Failure
|
December 15, 2021
Primary endpoint adjudication: comparison between the expert committee and the regulatory MedDRA® coding in the MITRA-FR study
Anthony Facile, Nathan Mewton, Marina Nguon, et al.
Human Mutation
|
June 20, 2003
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S
Roser Urreizti, Susana Balcells, Marga Rodés, et al.
Organic & Biomolecular Chemistry
|
April 13, 2017
Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, et al.
Organic & Biomolecular Chemistry
|
September 15, 2017
Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, et al.
Page
of 19