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The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effectDiversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisA genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4Exome sequencing identifies the cause of a mendelian disorderConnexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaAssociation between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populationsEvidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palateHigh throughput SNP and expression analyses of candidate genes for non-syndromic oral cleftsMutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndromeDevelopment and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general publicHuman cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chainLocalization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndromeLocalization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosisThe gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeNovel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variabilityA genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Structure of the human spermidine/spermine N1-acetyltransferase geneHOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceDevelopmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant miceJoint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.Gene expression in pharyngeal arch 1 during human embryonic development.Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populationsThe paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse modelsEvidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
P50
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P50
description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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name
Ethylin Wang Jabs
@ast
Ethylin Wang Jabs
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Ethylin Wang Jabs
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Ethylin Wang Jabs
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type
label
Ethylin Wang Jabs
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Ethylin Wang Jabs
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Ethylin Wang Jabs
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Ethylin Wang Jabs
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Ethylin Sidney Wang
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Ethylin W. Jabs
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Ethylin Wang Jabs
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Mimi Jabs
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Mimi Wang
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prefLabel
Ethylin Wang Jabs
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Ethylin Wang Jabs
@en
Ethylin Wang Jabs
@es
Ethylin Wang Jabs
@sl
P106
P1153
35450128400
P21
P31
P496
0000-0001-8983-5466