Search research articles
Contact Us
Filters
Showing results (121-130 of 181) with videos related to
Page
of 19
Sort By:
International Journal of Molecular Sciences
|
July 24, 2021
Functional Analyses of Four <i>CYP1A1</i> Missense Mutations Present in Patients with Atypical Femoral Fractures
Nerea Ugartondo, Núria Martínez-Gil, Mònica Esteve, et al.
International Journal of Molecular Sciences
|
February 9, 2021
<i>De Novo PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family
Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, et al.
Bone
|
March 18, 2019
Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3
Neus Roca-Ayats, Núria Martínez-Gil, Mónica Cozar, et al.
Human Mutation
|
April 23, 2008
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
Raül Santamaria, Helen Michelakakis, Marina Moraitou, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 8, 2008
A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women
Lídia Agueda, Mariona Bustamante, Susana Jurado, et al.
Chemmedchem
|
July 1, 2014
Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry
Jenny Serra-Vinardell, Lucía Díaz, Josefina Casas, et al.
Stem Cell Reports
|
September 29, 2015
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks
Isaac Canals, Jordi Soriano, Javier G Orlandi, et al.
Scientific Reports
|
January 14, 2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
Roser Urreizti, Sarah Damanti, Carla Esteve, et al.
Human Mutation
|
April 27, 2011
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients
Mónica Cozar, Roser Urreizti, Laura Vilarinho, et al.
BMC Medical Genomics
|
May 25, 2017
Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones
Laura De-Ugarte, Guy Yoskovitz, Susana Balcells, et al.
Page
of 19
Search research articles
Search
Showing results (121-130 of 181) with videos related to
Sort By:
Page
of 19
International Journal of Molecular Sciences
|
July 24, 2021
Functional Analyses of Four <i>CYP1A1</i> Missense Mutations Present in Patients with Atypical Femoral Fractures
Nerea Ugartondo, Núria Martínez-Gil, Mònica Esteve, et al.
International Journal of Molecular Sciences
|
February 9, 2021
<i>De Novo PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family
Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, et al.
Bone
|
March 18, 2019
Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3
Neus Roca-Ayats, Núria Martínez-Gil, Mónica Cozar, et al.
Human Mutation
|
April 23, 2008
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
Raül Santamaria, Helen Michelakakis, Marina Moraitou, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
August 8, 2008
A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women
Lídia Agueda, Mariona Bustamante, Susana Jurado, et al.
Chemmedchem
|
July 1, 2014
Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry
Jenny Serra-Vinardell, Lucía Díaz, Josefina Casas, et al.
Stem Cell Reports
|
September 29, 2015
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks
Isaac Canals, Jordi Soriano, Javier G Orlandi, et al.
Scientific Reports
|
January 14, 2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome
Roser Urreizti, Sarah Damanti, Carla Esteve, et al.
Human Mutation
|
April 27, 2011
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients
Mónica Cozar, Roser Urreizti, Laura Vilarinho, et al.
BMC Medical Genomics
|
May 25, 2017
Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones
Laura De-Ugarte, Guy Yoskovitz, Susana Balcells, et al.
Page
of 19