Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.
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Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersClosing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Immediate and long-term transcriptional response of hind muscle tissue to transient variation of incubation temperature in broilers.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.FAD104, a regulatory factor of adipogenesis, acts as a novel regulator of calvarial bone formation.Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia.Genetic advances in craniosynostosis.Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders
P2860
Q35173644-0CD37AE6-10B4-4CA3-9E14-F21348C034E1Q35809894-C545AC81-3D69-4EBB-8074-D6F5A88B656AQ36008045-74DAC2B7-D982-458E-9E3B-303FD6DEC8F6Q36629781-E082465D-D0FF-4306-8741-72DE6A9EFCF9Q37272149-93130B70-ABFC-41CA-B789-A332C212EFC7Q38032764-0567567E-D23F-4B0C-A871-B0E9ADF9E029Q51836646-687DE25D-69CF-4018-A3D3-3A43627F40D3Q52795305-4262CC3D-7F94-4A09-A8D6-33F410F43CA2Q58320177-3A25CD0A-AEB5-4050-AC10-08C66F3533F6
P2860
Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.
description
2005 nî lūn-bûn
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2005年の論文
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name
Balanced translocation in a pa ...... served non-transcribed region.
@en
Balanced translocation in a pa ...... served non-transcribed region.
@nl
type
label
Balanced translocation in a pa ...... served non-transcribed region.
@en
Balanced translocation in a pa ...... served non-transcribed region.
@nl
prefLabel
Balanced translocation in a pa ...... served non-transcribed region.
@en
Balanced translocation in a pa ...... served non-transcribed region.
@nl
P2093
P2860
P356
P1476
Balanced translocation in a pa ...... served non-transcribed region.
@en
P2093
A Tagariello
A Winterpacht
P2860
P304
P356
10.1136/JMG.2005.037820
P407
P577
2005-10-28T00:00:00Z