Du søkte etter 5p | "Microdeletion syndromes" | "cri du chat" og fikk 37 treff. Viser side 1 av 4.
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Cri du chat syndrom
Også kjent som 5p- delesjonssyndrom, kromosom 5p- syndrom.Cri du chat syndrom (CDCS) er en sjelden, medfødt tilstand. Tilstanden ble første gang beskrevet av den franske legen J. Lejeune i 1963. Navnet stammer fra den karakteristiske gråten i sped- og…
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Chromosomal translocations, deletions, and inversions
… downsize downsized downsizing ds ds' du du-chat du-chats du-chatting duplicated duplication duplications dyscrasia… transcriptional transcriptionally transcripts transduction translocated translocation translocation-associated…
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Chronic suppurative otitis media (CSOM): Clinical features and diagnosis
… criduchat crimean-congo csom cytokine cytokines daycare db db/db deaf deafness definite definition definitional definitions definitive differentiate discharge dizziness dizzy djibouti drops drum du du-chat du-chats du-chatting ear ear-drum…
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Microcephaly in infants and children: Etiology and evaluation
… 247200 261600 2nd 2nd-generation 2nd-look 2nd-stage 3;3 3rd 5p abnormal abnormally aciduria acidurias agyria aminoaciduria… microcepha microcephalies microcephaly microcephaly-capillary microdeletions microencepha microencephaly midbrain midbrains…
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Interaksjoner mellom desmopressin og valproat, rufinamid eller zonisamid?
SPØRSMÅL: Henvendelse fra lege: Har en pasient, et barn med Cri du chat, som har en besværlig epilepsi. Pasienten væter i sengen hver natt i relativt store mengder. Drikker ikke på natten. Muligens er epileptisk aktivitet frontalt årsaken til…
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Intellectual disability in children: Evaluation for a cause
… 47xy+21 abnormalities accidental adaptive allocation aminoaciduria aminoacidurias aminoacyltrna ammonia analysis and-mouthing… microcepha microcephalies microcephaly microcephaly-capillary microdeletion microdeletions microscope milestones mitochondrial…
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Prenatal diagnosis and management of congenital pulmonary airway malformation
#601200 (2.75/5) (fetal) 0.75 101 128 12;16 26 32 3d 4d 5p 600635 601200 606241 75 7;17 ablation ablation: abruptio… connection connections corpus couples course cpam crest cri-du-chat cri-du-chats cri-du-chatting cri-duchat cridu-chat…
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Congenital cytogenetic abnormalities
… 3.4.14.8 3.4.14.9 3;21 46 47 47xx+21 47xxx 47xxy 47xy+21 4;22 5p 7;22 8;16 8;21 8;22 9.5 9;14 9;15 9;22 abnormalities… microcepha microcephalies microcephaly microcephaly-capillary microdeletions micrognathia microphthalmia…
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Birth defects: Approach to evaluation
… cataracts cervicothoracic cervicothoraco cgh charge charts chat chediak chediak-higashi chediakhigashi chemicals child… microcepha microcephalies microcephaly microcephaly-capillary microdeletion microdeletions microduplication micropeni…
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Kilder
… and ifosfamide activation. Pharmacogenetics 7, 211-221. Chattopadhyay S, Moran RG, Goldman ID (2007): Pemetrexed:… Siddiqui MAA, Scott LJ (2005): Azacitidine in myelodysplastic syndromes. Drugs 65, 1781-1789. Spratlin J, Sawyer MB (2007):…