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A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

Sabbagh, Quentin Alkar, Fanny Patte, Karine Prodhomme, Olivier Janel, Caroline Touraine, Renaud Jeandel, Claire Geneviève, David

Published in European journal of medical genetics

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proxim...

The oral testimonies of former teachers about school and Estado Novo in Portugal from a sociodynamic perspective of memo...

Rooney Figueiredo Pinto

Published in Paedagogica Historica

Observation on bionomics, prevalence and survival value of geohelminth in the rural communities of Rivers state

D. A., Goodhead C. G., Dirisu J. E., Ayenku

Published in African Journal of Biological Sciences

Significantes intertextuales en la banda sonora de Bernardo Bonezzi: paradigma del cine de Pedro Almodóvar

Rastko Buljančević

Published in Cuadernos de Investigación Musical

A pesar de su reconocible habilidad compositiva, Bernardo Bonezzi no escapó a la influencia de los grandes compositores tanto clásicos como cinematográficos. Así, varias de sus obras, especialmente las del cine de Pedro Almodóvar, están muy arraigadas en el lenguaje compositivo de Nino Rota, Bernard Hermann, Erik Satie e Igor Stravinski. Primero, h...

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

The oral testimonies of former teachers about school and Estado Novo in Portugal from a sociodynamic perspective of memo...

Observation on bionomics, prevalence and survival value of geohelminth in the rural communities of Rivers state

Significantes intertextuales en la banda sonora de Bernardo Bonezzi: paradigma del cine de Pedro Almodóvar

Binomial Distribution with Optimized Combination of Combinatorics

Preparation of Nanofat Concentrate and Its Use for Hypertrophic Scar Treatment

The Etiological Understanding of Spine Deformities in Patients with Neuromuscular Disorders

Invasive Management of Vertebrobasilar Artery Stenosis and Occlusion: A Meta-Analysis on Efficacy and Safety Endpoints

A Model of Iterative Computations for Recursive Summability

Intuitionistic fuzzy sets: new approach and applications

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