Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
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De novo mutations in moderate or severe intellectual disabilityMediator kinase module and human tumorigenesisD-transposition of the great arteries: the current era of the arterial switch operationCoupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromesThe clinical significance of small copy number variants in neurodevelopmental disordersMediator complex dependent regulation of cardiac development and disease.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Further confirmation of the MED13L haploinsufficiency syndrome.Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice.Redefining the MED13L syndromeNovel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.De novo genic mutations among a Chinese autism spectrum disorder cohort.Regulation of metabolism by the Mediator complex.Array-CGH in children with mild intellectual disability: a population-based study.Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Diagnostic value of partial exome sequencing in developmental disorders
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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 February 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Dosage changes of MED13L furth ...... s and intellectual disability.
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Dosage changes of MED13L furth ...... s and intellectual disability.
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type
label
Dosage changes of MED13L furth ...... s and intellectual disability.
@en
Dosage changes of MED13L furth ...... s and intellectual disability.
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prefLabel
Dosage changes of MED13L furth ...... s and intellectual disability.
@en
Dosage changes of MED13L furth ...... s and intellectual disability.
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P2093
P2860
P356
P1476
Dosage changes of MED13L furth ...... ts and intellectual disability
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P2093
Alessandra Baumer
Anita Rauch
Beatrice Latal
Beatrice Oneda
Frenny Sheth
Gunnar Houge
Joris Andrieux
Pascal Joset
Reza Asadollahi
Rosa Baldinger
P2860
P2888
P304
P356
10.1038/EJHG.2013.17
P50
P577
2013-02-13T00:00:00Z