Du søkte etter Lissencephali | "microdeletion syndromes" og fikk 13 treff. Viser side 1 av 2.
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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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Microdeletion syndromes (chromosomes 1 to 11)
… microcepha microcephalies microcephaly microcephaly-capillary microdeletion microdeletions microduplication micrognathia… swallowing swallows syndacty syndactyly syndrome-like syndromes syndromic t(11;22) t(12;22) t(18;22) t(1;22) t(2;11)…
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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… sting-associated subcutaneoushipp subcutaneously superior syndromes synoviti synovitis t14;18 tcz thalidomide thalomid…
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Genomic disorders: An overview
… material mediating meiosis mendelian microarray microarrays 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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Genetic testing in patients with a suspected primary immunodeficiency or autoinflammatory syndrome
… marenostrin member mendelian mevalonate microarray microarrays microdeletion microdeletions mimic missed mitigare moniliasi… suspected swabs syndrome-families syndrome-family syndrome-like syndromes syndromic synthroid synthyroxine testing thymic…
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Recessive X-linked ichthyosis
… lyonized market medication-coated mediplast metopic microarray microdeletion microsomal mim mim# mimyx mintacitretin modulate… sulfate sulfates sulphate summer summer's suvicort sweat syndromes syndromic t(2;5) t(6;10) taroacitretin tazarotene…
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Strukturell variasjon i genomet bidrar til variasjon i egenskaper
… syndromer, såkalte kontinuerlige gensyndromer (contiguous gene syndromes), er det flere gener som er påvirket av… 38: 1038 – 42. 20 Shaw-Smith C, Pittman AM, Willatt L et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is…