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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(2020)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(American Society of Human Genetics by Elsevier Inc., 2020-01)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Variantes patogênicas e alteração da expressão em genes candidatos ao espectro óculo-aurículo-vertebral
(Universidade Federal de São Paulo (UNIFESP), 2018-12-20)
Objective: To investigate the presence of alterations in the sequence and expression
of candidate genes in a cohort of 73 patients diagnosed with oculoauriculovertebral
spectrum (OAVS). Methods: Next generation sequencing ...
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(Nature, 2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2. ...
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(Nature, 2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. ...
Identificação caixa-cinza de sistemas não lineares utilizando representações narmax racionais e polinomiais.
(Universidade Federal de Minas GeraisUFMG, 2001-02-16)
This thesis investigates the use of prior information in the identification of non-linear dynamic systems. This enables obtaining more robust models with leas parameters, greater generalization capacity and better performance ...
Elasticidad conjunta Facilidad de hacer negocios de las exportaciones de mercancías en el mundo.
(Universidad Santo TomásPregrado Negocios InternacionalesFacultad de Negocios Internacionales, 2022-08-20)
The present work wants to demonstrate by means of two variables that countries with better conditions for business promote their international trade via exports, for that the theory of the economic base was used, according ...