Aplicación de tecnologías de secuenciación masiva como método de detección de mutaciones para el diagnóstico de enfermedades poco frecuentes
G Buda - 2017 - bibliotecadigital.exactas.uba.ar
En Argentina, las enfermedades poco frecuentes de origen genético, afectan alrededor de
3, 2 millones de habitantes. En este contexto, el análisis del genoma completo, y …
3, 2 millones de habitantes. En este contexto, el análisis del genoma completo, y …
Genetic variation and complex rearrangements in Autism Spectrum Disorders: implications for genetic counseling
M Codina i Solà - 2016 - tdx.cat
The etiology of Autism Spectrum Disorders (ASD) remains unknown for most of the cases, in
spite of its strong genetic component. A greater knowledge of its genetic basis would result …
spite of its strong genetic component. A greater knowledge of its genetic basis would result …
Hépatocytes différenciés à partir de cellules souches pluripotentes induites: modèle pour la thérapie cellulaire et génique autologue de l'hémophilie B et modèle …
E Luce - 2017 - theses.hal.science
Ce projet de thèse vise à modéliser puis à apporter la preuve de concept d'une thérapie
cellulaire et génique autologue de maladies héréditaires du foie par la transplantation …
cellulaire et génique autologue de maladies héréditaires du foie par la transplantation …
Nová generace sekvenování (Next Generation Sequencing; NGS) v molekulární diagnostice arytmogenních onemocnění
I Synková - 2016 - is.muni.cz
Anotace Arytmogenní onemocnění tvoří velkou heterogenní skupinu poruch srdečního rytmu
často způsobujících smrt i mladých lidí. Mezi tato onemocnění patří vrozené srdeční …
často způsobujících smrt i mladých lidí. Mezi tato onemocnění patří vrozené srdeční …
[PDF][PDF] Genome Medicine
Background Whole exome sequencing is increasingly used for the clinical evaluation of
genetic disease, yet the variation of coverage and sensitivity over medically relevant parts of …
genetic disease, yet the variation of coverage and sensitivity over medically relevant parts of …
[PDF][PDF] Whole-exome-sequencing: the new thinking for the diagnosis of childhood diseases
MAD Ai-yao, MAD Ai-lu - Chinese Journal of Evidence-Based Pediatrics, 2015 - cjebp.net
作者单位 1 复旦大学附属儿科医院 上海, 201102; 2 上海市出生缺陷防治重点实验室,
复旦大学儿童发育与疾病转化医学研究中心, 卫生部新生儿疾病重点实验室 …
复旦大学儿童发育与疾病转化医学研究中心, 卫生部新生儿疾病重点实验室 …
Pathway to Autism Spectrum Disorders: Finding Patterns of Common Genetic Variation Underlying the Complex Disorder
YS Park - 2015 - scholarship.miami.edu
Figure 4.4 Qualitative assessment of RF generated proximities using MDS between
simulated individuals of scenario 1. 10 causal gene risk scores are sufficient to distinguish …
simulated individuals of scenario 1. 10 causal gene risk scores are sufficient to distinguish …
Application of genomic technologies for molecular diagnosis of genetic diseases
K Hudspith - 2015 - ora.ox.ac.uk
Methods for sequencing deoxyribonucleic acid (DNA) have improved rapidly in the past
decade. Recent methods, termed" next-generation sequencing"(NGS), have made …
decade. Recent methods, termed" next-generation sequencing"(NGS), have made …
[图书][B] Molecular Insights Into Development in Humans: Studies in Normal Development and Birth Defects
M Smith - 2014 - books.google.com
The aim and scope of this book is to review current information on human development and
processes of differentiation that have benefited from breakthrough analyses in stem cell …
processes of differentiation that have benefited from breakthrough analyses in stem cell …
Exoom-sequencing in de diagnostiek van ontwikkelingsachterstand/verstandelijke beperking
MH Willemsen, T Kleefstra, HG Yntema - Tijdschrift voor …, 2014 - Springer
Onverklaarde ontwikkelingsachterstand/verstandelijke beperking (VB) is een van de
belangrijkste redenen voor verwijzing naar de kinderarts en/of klinisch geneticus. De …
belangrijkste redenen voor verwijzing naar de kinderarts en/of klinisch geneticus. De …