Search research articles
Contact Us
Filters
Showing results (161-170 of 181) with videos related to
Page
of 19
Sort By:
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 6, 2018
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types
Neus Roca-Ayats, Pei Ying Ng, Natàlia Garcia-Giralt, et al.
Journal of Medical Genetics
|
October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.
Scientific Reports
|
March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.
Journal of Human Genetics
|
February 16, 2006
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Roser Urreizti, Carla Asteggiano, Marta Bermudez, et al.
Journal of Human Genetics
|
February 9, 2020
Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Roser Urreizti, Carla Asteggiano, Marta Bermudez, et al.
Orphanet Journal of Rare Diseases
|
February 12, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 17, 2011
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
Núria Setó-Salvia, Javier Pagonabarraga, Henry Houlden, et al.
The New England Journal of Medicine
|
May 4, 2017
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates
Neus Roca-Ayats, Susana Balcells, Natàlia Garcia-Giralt, et al.
Frontiers in Endocrinology
|
September 20, 2021
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Melissa M Formosa, Dylan J M Bergen, Celia L Gregson, et al.
Cell Reports
|
April 22, 2014
Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries
Meritxell Reverter, Carles Rentero, Ana Garcia-Melero, et al.
Page
of 19
Search research articles
Search
Showing results (161-170 of 181) with videos related to
Sort By:
Page
of 19
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 6, 2018
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types
Neus Roca-Ayats, Pei Ying Ng, Natàlia Garcia-Giralt, et al.
Journal of Medical Genetics
|
October 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, et al.
Scientific Reports
|
March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.
Journal of Human Genetics
|
February 16, 2006
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Roser Urreizti, Carla Asteggiano, Marta Bermudez, et al.
Journal of Human Genetics
|
February 9, 2020
Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Roser Urreizti, Carla Asteggiano, Marta Bermudez, et al.
Orphanet Journal of Rare Diseases
|
February 12, 2020
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 17, 2011
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
Núria Setó-Salvia, Javier Pagonabarraga, Henry Houlden, et al.
The New England Journal of Medicine
|
May 4, 2017
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates
Neus Roca-Ayats, Susana Balcells, Natàlia Garcia-Giralt, et al.
Frontiers in Endocrinology
|
September 20, 2021
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Melissa M Formosa, Dylan J M Bergen, Celia L Gregson, et al.
Cell Reports
|
April 22, 2014
Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries
Meritxell Reverter, Carles Rentero, Ana Garcia-Melero, et al.
Page
of 19