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Lista de obras de Robert Pogue

A transcriptional profile of human fetal cartilage.

artículo científico publicado en 2004

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

scientific article published on 01 December 1996

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

artículo científico publicado en 2016

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias

artículo científico publicado en 2003

BMP signaling in the cartilage growth plate.

artículo científico publicado en 2006

BMPs regulate multiple aspects of growth-plate chondrogenesis through opposing actions on FGF pathways.

artículo científico publicado en 2006

Breaking the frontiers of cosmetology with antimicrobial peptides

artículo científico publicado en 2018

Calpainopathy-a survey of mutations and polymorphisms

artículo científico publicado en 1999

Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?

scientific article published on 01 November 1999

Comparative transcriptomic analysis indicates genes associated with local and systemic resistance to Colletotrichum graminicola in maize

artículo científico publicado en 2017

Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature

artículo científico publicado en 2017

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

artículo científico publicado en 2019

IDR-1018 induces cell proliferation, migration, and reparative gene expression in 2D culture and 3D human skin equivalents

scientific article published on 26 August 2019

Intraovarian injection of mesenchymal stem cells improves oocyte yield and in vitro embryo production in a bovine model of fertility loss

artículo científico publicado en 2020

Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion? ⬇️

artículo científico publicado el 1 de noviembre de 1997

Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection

artículo científico publicado en 1998

Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis

article

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

artículo científico publicado en 2020

Plant storage proteins with antimicrobial activity: novel insights into plant defense mechanisms.

artículo científico publicado en 2011

Population analysis of pharmacogenetic polymorphisms related to acute lymphoblastic leukemia drug treatment ⬇️

artículo científico publicado el 1 de enero de 2012

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

article

Rare genetic diseases: update on diagnosis, treatment and online resources

artículo científico publicado en 2017

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

article

Shedding some light over the floral metabolism by arum lily (Zantedeschia aethiopica) spathe de novo transcriptome assembly

artículo científico publicado en 2014

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

artículo científico publicado en 2017

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

scientific article published on 01 January 2001

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

artículo científico publicado en 2018

The exon 3 polymorphism of the growth hormone receptor is a severity-related factor for osteoporosis.

artículo científico publicado en 2013

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

artículo científico publicado en 2001

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

artículo científico publicado en 2015

Use of microRNAs in directing therapy and evaluating treatment response in colorectal cancer

artículo científico publicado en 2014

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