Drop of Prevalence after Population Expansion: A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after …
LL Rocca, J Frank, HB Bentzen, JT Pantel, K Gerischer… - bioRxiv, 2021 - biorxiv.org
Despite increasing data from population-wide sequencing studies, the risk for recessive
disorders in consanguineous partnerships is still heavily debated. An important aspect that …
disorders in consanguineous partnerships is still heavily debated. An important aspect that …
Exploration de familles non-résolues avec déficience intellectuelle présumée liée à l'X à l'ère du Whole Genome Sequencing
SD El Chehadeh - 2023 - theses.hal.science
La déficience intellectuelle (DI) concerne 2% de la population et représente la première
cause de consultation dans les centres de génétique pédiatriques. Plus de la moitié des …
cause de consultation dans les centres de génétique pédiatriques. Plus de la moitié des …
[HTML][HTML] The Role of Music Therapy in Supporting Intellectually Disabled Youth in Senegal
RB Youm, K Diarra, M Pouye, JA Dié - Health, 2024 - scirp.org
Introduction: Music therapy is a practice for helping and supporting people with intellectual
and relational difficulties. This study illustrated the benefits of music therapy for young …
and relational difficulties. This study illustrated the benefits of music therapy for young …
[图书][B] Impaired Neurogenesis and Obesity in NIBP Syndrome
BH Bodnar - 2023 - search.proquest.com
Abstract NIBP (NIK-and-IKK2-binding protein; also known as TRAPPC9), is an important
mediator of NFκB signaling and protein transport/trafficking, both of which play key roles in …
mediator of NFκB signaling and protein transport/trafficking, both of which play key roles in …
Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy
NA Semenova, EL Dadali, AA Sharkov… - Neuromuscular …, 2017 - nmb.abvpress.ru
One of the most common neurological symptoms in children of the first year of life is
seizures, the etiology of which is manifold. Investigations in recent years have shown that a …
seizures, the etiology of which is manifold. Investigations in recent years have shown that a …
Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
C Lacoste, JP Desvignes, D Salgado, C Pecheux… - Journal of genetics, 2016 - Springer
Methods We generated and analysed sequence coverage data of 45 exome runs (14 duplex
runs following barcoding using Ion Xpress TM Barcode Adapters (Life Technologies) and 31 …
runs following barcoding using Ion Xpress TM Barcode Adapters (Life Technologies) and 31 …
[PDF][PDF] Facultad de Psicología Carrera de Psicología
KIM Cuzco - 2023 - dspace.ucuenca.edu.ec
El funcionamiento familiar es la capacidad de un sistema familiar para cambiar su estructura
de poder, relaciones, normas y reglas en respuesta a la situación cambiante y la evolución …
de poder, relaciones, normas y reglas en respuesta a la situación cambiante y la evolución …
Kehitysvammainen henkilö sosiaali-ja terveydenhuollon asiakkaana
R Hämäläinen - 2023 - theseus.fi
Opinnäytetyön aiheena oli kehitysvammainen henkilö sosiaali-ja terveydenhuollon
asiakkaana. Tutkimusongelman muodosti se, ettei integratiivisen kirjallisuuskatsauksen …
asiakkaana. Tutkimusongelman muodosti se, ettei integratiivisen kirjallisuuskatsauksen …
[图书][B] Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder
RS Harripaul - 2021 - search.proquest.com
The development of the nervous system is a tightly timed and controlled process where
aberrant development may lead to neurodevelopmental disorders. Two of the most common …
aberrant development may lead to neurodevelopmental disorders. Two of the most common …
微阵列分析技术检测脑发育迟缓患儿基因拷贝数变异
朱丽娜， 王艳， 陈佳， 杨晓， 彭薇， 马秀伟… - 临床儿科 …, 2015 - jcp.xinhuamed.com.cn
目的分析发育迟缓患儿基因拷贝数变异(CNVs) 与临床表现的相关性. 方法应用微阵列单核苷酸
多态性(SNP array) 分析技术对1 例发育迟缓患儿及其临床表型正常的父母亲进行全基因组 …
多态性(SNP array) 分析技术对1 例发育迟缓患儿及其临床表型正常的父母亲进行全基因组 …