A case of de novo mosaic 18q21.3 deletion with a mild phenotype
dc.contributor.author | Alp, Muhammed Yunus | |
dc.contributor.author | Çebi, Alper Han | |
dc.contributor.author | Seyhan, S. | |
dc.contributor.author | Cansu, Ali | |
dc.contributor.author | İkbal, Mevlit | |
dc.contributor.buuauthor | yok | |
dc.date.accessioned | 2024-01-15T06:45:33Z | |
dc.date.available | 2024-01-15T06:45:33Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | Alp, M. Y. vd. (2014). "A case of de novo mosaic 18q21.3 deletion with a mild phenotype". Genetic Counseling, 25(1), 71-73. | en_US |
dc.identifier.endpage | 73 | tr_TR |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 1 | tr_TR |
dc.identifier.pubmed | 24783659 | tr_TR |
dc.identifier.scopus | 2-s2.0-84899083814 | tr_TR |
dc.identifier.startpage | 71 | tr_TR |
dc.identifier.uri | https://hdl.handle.net/11452/39014 | |
dc.identifier.volume | 25 | tr_TR |
dc.identifier.wos | 000337197500012 | tr_TR |
dc.indexed.pubmed | PubMed | en_US |
dc.indexed.wos | SCIE | |
dc.language.iso | en | en_US |
dc.publisher | Medecine Et Hygiene | en_US |
dc.relation.journal | Genetic Counseling | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Chromosome 18q | en_US |
dc.subject | Biotechnology & applied microbiology | en_US |
dc.subject | Genetics & heredity | en_US |
dc.subject | Research & experimental medicine | en_US |
dc.subject | Medical ethics | en_US |
dc.subject.emtree | 18q deletion syndrome | en_US |
dc.subject.emtree | Body height | en_US |
dc.subject.emtree | Body weight | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Child | en_US |
dc.subject.emtree | Chromosome 18q | en_US |
dc.subject.emtree | Chromosome aberration | en_US |
dc.subject.emtree | Chromosome analysis | en_US |
dc.subject.emtree | Denver developmental screening test | en_US |
dc.subject.emtree | Developmental disorder | en_US |
dc.subject.emtree | Echocardiography | en_US |
dc.subject.emtree | Echography | en_US |
dc.subject.emtree | Eczema | en_US |
dc.subject.emtree | Face dysmorphia | en_US |
dc.subject.emtree | Foot malformation | en_US |
dc.subject.emtree | Gestational age | en_US |
dc.subject.emtree | Head circumference | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Hypospadias | en_US |
dc.subject.emtree | Letter | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Medical genetics | en_US |
dc.subject.emtree | Mental deficiency | en_US |
dc.subject.emtree | Mosaicism | en_US |
dc.subject.emtree | Motor retardation | en_US |
dc.subject.emtree | Nuclear magnetic resonance imaging | en_US |
dc.subject.emtree | Nystagmus | en_US |
dc.subject.emtree | Patient referral | en_US |
dc.subject.emtree | Pes equinovarus | en_US |
dc.subject.emtree | Phenotype | en_US |
dc.subject.emtree | Pregnancy | en_US |
dc.subject.emtree | Preschool child | en_US |
dc.subject.emtree | Vaginal delivery | en_US |
dc.subject.mesh | Child, preschool | en_US |
dc.subject.mesh | Chromosome deletion | en_US |
dc.subject.mesh | Chromosome disorders | en_US |
dc.subject.mesh | Chromosomes, human, pair 18 | en_US |
dc.subject.mesh | Developmental disabilities | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Mosaicism | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.wos | Biotechnology & applied microbiology | en_US |
dc.subject.wos | Medicine, research & experimental | en_US |
dc.subject.wos | Genetics & heredity | en_US |
dc.subject.wos | Medical ethics | en_US |
dc.title | A case of de novo mosaic 18q21.3 deletion with a mild phenotype | en_US |
dc.type | Article | en_US |
dc.wos.quartile | Q4 |
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