Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
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MEGF8 is a modifier of BMP signaling in trigeminal sensory neuronsA noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsA Genetic-Pathophysiological Framework for CraniosynostosisA novel mutation in EED associated with overgrowthClosing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.Translational genetics: advancing fronts for craniofacial health.Genetic basis of human left-right asymmetry disorders.Axitinib and sorafenib are potent in tyrosine kinase inhibitor resistant chronic myeloid leukemia cellsBiological functions of fucose in mammals.Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathwaysCRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog.Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.The Drosophila homologue of MEGF8 is essential for early development.Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic formsPrenatal findings in carpenter syndrome and a novel mutation in RAB23Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics
P2860
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P2860
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in multidomain prote ...... with defective lateralization
@ast
Mutations in multidomain prote ...... with defective lateralization
@en
Mutations in multidomain prote ...... with defective lateralization
@en-gb
Mutations in multidomain prote ...... with defective lateralization
@nl
type
label
Mutations in multidomain prote ...... with defective lateralization
@ast
Mutations in multidomain prote ...... with defective lateralization
@en
Mutations in multidomain prote ...... with defective lateralization
@en-gb
Mutations in multidomain prote ...... with defective lateralization
@nl
prefLabel
Mutations in multidomain prote ...... with defective lateralization
@ast
Mutations in multidomain prote ...... with defective lateralization
@en
Mutations in multidomain prote ...... with defective lateralization
@en-gb
Mutations in multidomain prote ...... with defective lateralization
@nl
P2093
P2860
P50
P1476
Mutations in multidomain prote ...... with defective lateralization
@en
P2093
Ali Annagür
Bernard D Keavney
Dagan Jenkins
Deborah Lloyd
Gabriele Gillessen-Kaesbach
Irina Hüning
Judith A Goodship
Nouriya Al-Sannaa
Nursel E Elçioglu
Philip L Beales
P2860
P304
P356
10.1016/J.AJHG.2012.08.027
P407
P50
P577
2012-10-11T00:00:00Z