[HTML][HTML] A novel LINS1 truncating mutation in autosomal recessive nonsyndromic intellectual disability
The large majority of cases with intellectual disability are syndromic (ie occur with other well-
defined clinical phenotypes) and have been studied extensively. Autosomal recessive …
defined clinical phenotypes) and have been studied extensively. Autosomal recessive …
The PTRHD1 mutation in intellectual disability
S Cheraghi, S Moghbelinejad… - Archives of Iranian …, 2021 - journalaim.com
Background: Intellectual disability (ID) is a heterogonous disorder with complex etiology.
The frequency of autosomal recessive inheritance defects was elevated in a …
The frequency of autosomal recessive inheritance defects was elevated in a …
[HTML][HTML] Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort
Background: Intellectual disability (ID) is a genetically heterogeneous condition, and so far,
1679 human genes have been identified for this phenotype. Countries with a high rate of …
1679 human genes have been identified for this phenotype. Countries with a high rate of …
[HTML][HTML] Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family
E Lindholm Carlström, J Halvardson… - BMC Medical …, 2019 - Springer
Background Non-syndromic intellectual disability is genetically heterogeneous with
dominant, recessive and complex forms of inheritance. We have performed detailed genetic …
dominant, recessive and complex forms of inheritance. We have performed detailed genetic …
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry
MR Sanderson, KE Badior, RP Fahlman, R Wevrick - Human Genetics, 2020 - Springer
Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of
function of a set of imprinted genes on chromosome 15q11–15q13. One of these genes …
function of a set of imprinted genes on chromosome 15q11–15q13. One of these genes …
Investigação de desvios extremos da inativação do cromossomo X em mulheres com deficiência intelectual idiopática como indicativo de variantes causais
LD Chaves - 2022 - teses.usp.br
A Deficiência Intelectual (DI) é uma condição que apresenta grande heterogeneidade
clínica e etiológica, afetando aproximadamente 2-3% dos indivíduos da população mundial …
clínica e etiológica, afetando aproximadamente 2-3% dos indivíduos da população mundial …
Contribution of Iran in elucidating the genetic causes of autosomal recessive intellectual disability
R Ataei, S Khoshbakht, M Beheshtian… - Archives of Iranian …, 2019 - journalaim.com
Many genes with different inheritance modes contribute to the pathogenicity of intellectual
disability (ID) making it the most known genetically heterogeneous disorder. Advanced next …
disability (ID) making it the most known genetically heterogeneous disorder. Advanced next …
Genetics of mental retardation
AV Lavrov, AV Bannikov… - … Vestnik Perinatologii i …, 2017 - ped-perinatology.ru
According to various estimates, mental retardation occurs in 1-3% of the population. Mental
retardation is customary to clinically classify in terms of its severity; however, its classification …
retardation is customary to clinically classify in terms of its severity; however, its classification …
染色体微阵列分析技术在不明原因神经发育障碍性疾病患儿中的应用
邵晨, 闫冬梅, 王艳娟, 赵亚丽, 杨舒婷… - 蚌埠医科大学 …, 2021 - xuebao.bbmu.edu.cn
染色体微阵列分析技术在不明原因神经发育障碍性疾病患儿中的应用邵晨, 闫冬梅, 王艳娟, 赵亚
Page 1 染色体微阵列分析技术在不明原因神经发育障碍性疾病患儿中的应用 邵晨, 闫冬梅, 王艳娟 …
Page 1 染色体微阵列分析技术在不明原因神经发育障碍性疾病患儿中的应用 邵晨, 闫冬梅, 王艳娟 …
[HTML][HTML] Landmarks in the Evolution of (t)-RNAs from the Origin of Life up to Their Present Role in Human Cognition
D Balke, A Kuss, S Müller - Life, 2015 - mdpi.com
How could modern life have evolved? The answer to that question still remains unclear.
However, evidence is growing that, since the origin of life, RNA could have played an …
However, evidence is growing that, since the origin of life, RNA could have played an …