A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism [3]
dc.authorscopusid | 55949619900 | |
dc.authorscopusid | 6504832676 | |
dc.authorscopusid | 23007961100 | |
dc.authorscopusid | 6508081411 | |
dc.contributor.author | Gulcan H. | |
dc.contributor.author | Uzum I. | |
dc.contributor.author | Dayangac D. | |
dc.contributor.author | Gurses I. | |
dc.date.accessioned | 2024-08-04T19:59:40Z | |
dc.date.available | 2024-08-04T19:59:40Z | |
dc.date.issued | 2005 | |
dc.department | İnönü Üniversitesi | en_US |
dc.description.abstract | [No abstract available] | en_US |
dc.identifier.endpage | 114 | en_US |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 1 | en_US |
dc.identifier.pmid | 15844790 | en_US |
dc.identifier.scopus | 2-s2.0-16444380146 | en_US |
dc.identifier.scopusquality | N/A | en_US |
dc.identifier.startpage | 113 | en_US |
dc.identifier.uri | https://hdl.handle.net/11616/90811 | |
dc.identifier.volume | 16 | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Genetic Counseling | en_US |
dc.relation.publicationcategory | Diğer | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | DNA | en_US |
dc.subject | case report | en_US |
dc.subject | congenital hypothyroidism | en_US |
dc.subject | disease association | en_US |
dc.subject | disease classification | en_US |
dc.subject | disease severity | en_US |
dc.subject | DNA sequence | en_US |
dc.subject | Down syndrome | en_US |
dc.subject | human | en_US |
dc.subject | human tissue | en_US |
dc.subject | letter | en_US |
dc.subject | male | en_US |
dc.subject | motor neuron disease | en_US |
dc.subject | muscle hypotonia | en_US |
dc.subject | newborn | en_US |
dc.subject | polymerase chain reaction | en_US |
dc.subject | spinal muscular atrophy | en_US |
dc.subject | thyroid function | en_US |
dc.subject | trisomy 21 | en_US |
dc.subject | Autoantigens | en_US |
dc.subject | Congenital Hypothyroidism | en_US |
dc.subject | Down Syndrome | en_US |
dc.subject | Echocardiography, Doppler, Color | en_US |
dc.subject | Exons | en_US |
dc.subject | Heart Septal Defects, Atrial | en_US |
dc.subject | Humans | en_US |
dc.subject | Hypothyroidism | en_US |
dc.subject | Infant, Newborn | en_US |
dc.subject | Male | en_US |
dc.subject | Ribonucleoproteins, Small Nuclear | en_US |
dc.subject | Spinal Muscular Atrophies of Childhood | en_US |
dc.title | A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism [3] | en_US |
dc.type | Letter | en_US |