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Microdeletion syndromes (chromosomes 1 to 11)
… 194072 194080 1;22 22q11 2;11 2;22 2b 2q37 300005 312750 4;11 4p 5q35 600209 600430 6;11 7-like 7;11 9;11 9p aber abl1-like… william william's williams williams' wilms wilms' winged wms wolf wolf's wolf-hirschhorn wolfhirschhorn wrist-banded wt1…
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Microdeletion syndromes (chromosomes 12 to 22)
… microcephalies microcephaly microcephaly-capillary microcysts microdeletion microdeletions microduplication micrognathia… swallowed swallowers swallowing swallows syndrome-related syndromes syndromic syringomyelia syrinx t(11;22) t(12;22)…
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Microduplication syndromes
… microcepha microcephalies microcephaly microcephaly-capillary microdeletion microduplication microphthalmia… suppressor swallow swallowed swallowers swallowing swallows syndromes syndromic syringomyelia syrinx t(1;22) t(2;13) t(3;5)…
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Cryopyrin-associated periodic syndromes and related disorders
… meningitis meningococcal meningococcu meningococcus mib-1 microdeletion microphthalmia-associated microtubule-associated… sry-related starts sterile sting-associated superior syndromes synoviti synovitis t11;18 t14;18 tcz thalidomide…
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Genetic testing in patients with a suspected primary immunodeficiency or autoinflammatory syndrome
… 233710 249100 250250 260920 304790 306400 47xx+21 47xy+21 4p 601705 608107 abatacept ability acne acneic acnes activator… variants vasculopathies vasculopathy vus wbcs wbcs' wes whole wolf wolf's wolf-hirschhorn wolfhirschhorn xlaad xpid yeast…
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Genomic disorders: An overview
… meiosis mendelian microarray microarrays microbiome microbiomes microdeletion misperceptions mlpa monosomy mosaicism mosaicisms… smith-magenis smithmagenis snp spanning spots spreads syndromes syndromic tandem taybi technology toddler toddler's…
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Microcephaly: A clinical genetics approach
… microcepha microcephalies microcephaly microcephaly-capillary microdeletion microdeletions microduplication midparental mim… streaks studies supplemented syndrome-families syndrome-family syndromes syndromic synthetase tact terminal terminologies…
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DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis
… lymphopenias maternal-infant may-thurner maythurner microarray microdeletion microdeletions mitogen mitogen-activated mitogenic… syndrome-family syndrome-like syndrome-related syndrome: syndromes tbx1 tcr teratogen teratogenic teratogenicity…
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Recessive X-linked ichthyosis
… market medicines medicines' mediplast metopic microarray microdeletion microsomal mim mim# mimyx mintacitretin modulate… sulfate sulfates sulphate summer summer's suvicort sweat syndromes syndromic t(2;5) taroacitretin tazarotene tazorac teen…
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Cystic hygroma and increased nuchal translucency
… medicine's meningocele meningoceles mesenchymal microarray microdeletions monochorionic monosomy multilocular neural… structural studies suckband-and-cut suckbandand-cut survey syndromes t(11;14) t(11;22) t(16;21) t(18;22) t(21;22) t(2;22)…