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Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency. [PDF]
Cao L +10 more
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Molecular insights into heart field-specific cardiomyocyte differentiation - A computational study. [PDF]
Zeegelaar R, Argyris G, Post JN.
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Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review. [PDF]
Hamed NF +5 more
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The systemic effects of 22q11.2 deletion syndrome on immunity. [PDF]
van Oers NSC, Sullivan KE.
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Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women. [PDF]
Hu L +7 more
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Current topics in developmental biology, 2017
Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.
A. Baldini, F.G. Fulcoli, E. Illingworth
openaire +4 more sources
Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.
A. Baldini, F.G. Fulcoli, E. Illingworth
openaire +4 more sources
Role of TBX1 in human del22q11.2 syndrome
Lancet, The, 2003Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region.
Takashi Sasaki +2 more
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