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3700
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3701
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3702
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3703
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3706
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3708
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3709
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3710
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3711
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3712
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3713
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3714
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3715
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3716
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3717
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3718
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3719
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3720
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3721
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3722
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3723
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3724
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3725
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3726
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3727
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3728
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3729
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3730
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3731
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3732
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3733
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3734
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3735
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3736
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3737
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3738
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3739
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3740
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3741
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3742
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3743
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3744
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3745
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3746
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3748
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3749
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3750
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3751
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3752
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3753
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3754
[ "The", "difference", "between", "BA", "and", "CA", "was", "1.9", "±", "1.4", "years", "." ]
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3755
[ "Basal", "17OHP", "concentrations", "were", "14.5", "±", "19.1", "ng", "/", "ml", "(", "18", "patients", "<", "2", "ng", "/", "ml", ")", "." ]
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3756
[ "In", "total", ",", "58.1", "%", "mild", "and", "34.7", "%", "severe", "mutations", "were", "found", "." ]
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3757
[ "The", "most", "common", "mutation", "was", "p.", "Val281Leu", "(", "39.1", "%", ")", ";", "65.8", "%", "of", "the", "patients", "could", "be", "allocated", "to", "group", "C1", "." ]
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3758
[ "No", "phenotypical", "differences", "were", "found", "between", "the", "3", "mutation", "groups", "." ]
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3759
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3760
[ "Conclusion", "Most", "of", "the", "patients", "have", "symptoms", "of", "mild", "androgenisation", "." ]
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3761
[ "Male", "patients", "are", "underdiagnosed", "." ]
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3762
[ "Diagnostics", "are", "not", "standardised", "." ]
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3763
[ "Differences", "between", "the", "types", "of", "mutations", "are", "found", "in", "the", "hormone", "concentrations", "but", "not", "in", "phenotype", "." ]
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3764
[ "We", "speculate", "that", "further", ",", "as", "yet", "not", "clearly", "defined", ",", "factors", "are", "responsible", "for", "the", "development", "of", "the", "respective", "phenotypes", "." ]
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3765
[ "Standardized", "screening", "assessments", "and", "sex", "differences", "in", "autism", "spectrum", "disorder", "(", "ASD", ")", "are", "still", "under", "-", "explored", "in", "Poland", "." ]
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3766
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3767
[ "The", "study", "included", "90", "ASD", "participants", "from", "Mental", "Health", "Services", "and", "Autism", "Clinics", "in", "Poland", "with", "no", "intellectual", "disability", "and", "no", "profound", "communication", "difficulties", "." ]
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3768
[ "Parents", "provided", "information", "on", "the", "SCQ", "items", "which", "were", "compared", "under", "three", "domains", "of", "the", "Autism", "Diagnostic", "Interview", "-", "Revised", "(", "ADI", "-", "R", ")", "." ]
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3769
[ "Four", "SCQ", "items", "with", "the", "examples", "were", "investigated", "." ]
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3770
[ "No", "significant", "differences", "were", "found", "between", "the", "two", "sexes", "in", "the", "three", "domains", "." ]
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3771
[ "The", "repetitive", "use", "of", "objects", "declined", "with", "age", "in", "ASD", "males", "." ]
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3772
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3773
[ "Congenital", "disorders", "of", "glycosylation", "(", "CDG", ")", "are", "rare", "diseases", "with", "variable", "phenotypes", "and", "severity", "." ]
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3774
[ "Immunological", "involvement", "remains", "a", "largely", "uncharted", "topic", "in", "CDG", ",", "mainly", "due", "to", "lack", "of", "robust", "data", "." ]
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3775
[ "To", "better", "characterize", "immune", "-", "related", "manifestations", "'", "prevalence", ",", "relevance", ",", "and", "quality", "-", "of", "-", "life", "(", "QoL", ")", "impact", ",", "we", "developed", "electronic", "questionnaires", "targeting", "(", "1", ")", "CDG", "patients", "and", "(", "2", ")", "the", "general", "healthy", "population", "." ]
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3776
[ "Two", "-", "hundred", "and", "nine", "CDG", "patients", "/", "caregivers", "and", "349", "healthy", "participants", "were", "included", "in", "this", "study", "." ]
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3777
[ "PMM2", "-", "CDG", "was", "the", "most", "represented", "CDG", "(", "n", "=", "122/209", ")", "." ]
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3778
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3779
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3780
[ "Autoimmune", "diseases", "had", "only", "a", "marginal", "presence", "in", "PMM2", "-", "CDG", "(", "2.5", "%", ",", "n", "=", "3/122", ")", ",", "all", "being", "GI", "-", "related", "." ]
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3781
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3782
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3783
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3784
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3785
[ "Isolated", "cleft", "palate", "(", "CPO", ")", "is", "the", "rarest", "form", "of", "oral", "clefting", "." ]
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3786
[ "The", "incidence", "of", "CPO", "varies", "substantially", "by", "geography", "from", "1.3", "to", "25.3", "per", "10,000", "live", "births", ",", "with", "the", "highest", "rates", "in", "British", "Columbia", ",", "Canada", "and", "the", "lowest", "rates", "in", "Nigeria", ",", "Africa", "." ]
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3787
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3788
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3789
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3790
[ "Several", "animal", "models", "have", "yielded", "insight", "into", "the", "molecular", "pathways", "responsible", "for", "proper", "closure", "of", "the", "palate", ",", "including", "the", "BMP", ",", "TGF", "-", "β0", ",", "and", "SHH", "signaling", "pathways", "." ]
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3791
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3792
[ "Some", "studies", "have", "suggested", "that", "maternal", "glucocorticoid", "exposure", "may", "also", "be", "important", "." ]
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3793
[ "Clearly", ",", "there", "is", "a", "need", "for", "larger", "epidemiologic", "studies", "to", "further", "investigate", "both", "genetic", "and", "environmental", "risk", "factors", "and", "gene", "-", "environment", "interactions", "." ]
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3794
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3795
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3796
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3797
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