par Bond, Jacquelyn;Scott, S.;Hampshire, Daniel J;Springell, Kelly;Corry, Peter;Abramowicz, Marc 
;Mochida, Ganesh H;Hennekam, R C;Maher, Eamonn R;Fryns, J P;Alswaid, Abdulrahman;Jafri, Hussain;Rashid, Yasmin;Mubaidin, Ammar;Walsh, C A;Roberts, Emma;Woods, C Geoffrey
Référence American journal of human genetics, 73, 5, page (1170-1177)
Publication Publié, 2003-11
;Mochida, Ganesh H;Hennekam, R C;Maher, Eamonn R;Fryns, J P;Alswaid, Abdulrahman;Jafri, Hussain;Rashid, Yasmin;Mubaidin, Ammar;Walsh, C A;Roberts, Emma;Woods, C GeoffreyRéférence American journal of human genetics, 73, 5, page (1170-1177)
Publication Publié, 2003-11
Article révisé par les pairs
| Titre: |
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| Auteur: | Bond, Jacquelyn; Scott, S.; Hampshire, Daniel J; Springell, Kelly; Corry, Peter; Abramowicz, Marc; Mochida, Ganesh H; Hennekam, R C; Maher, Eamonn R; Fryns, J P; Alswaid, Abdulrahman; Jafri, Hussain; Rashid, Yasmin; Mubaidin, Ammar; Walsh, C A; Roberts, Emma; Woods, C Geoffrey |
| Informations sur la publication: | American journal of human genetics, 73, 5, page (1170-1177) |
| Statut de publication: | Publié, 2003-11 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| MeSH keywords: | Amino Acid Sequence |
| Base Sequence | |
| Brain -- abnormalities | |
| Brain -- metabolism | |
| Brain -- pathology | |
| Chromosomes, Human, Pair 1 -- genetics | |
| Codon, Nonsense -- genetics | |
| Consanguinity | |
| DNA Mutational Analysis | |
| Exons -- genetics | |
| Frameshift Mutation -- genetics | |
| Genes, Recessive -- genetics | |
| Haplotypes -- genetics | |
| Humans | |
| Introns -- genetics | |
| Male | |
| Mental Retardation -- complications | |
| Mental Retardation -- genetics | |
| Mental Retardation -- physiopathology | |
| Microcephaly -- complications | |
| Microcephaly -- genetics | |
| Microcephaly -- pathology | |
| Microsatellite Repeats -- genetics | |
| Mutation -- genetics | |
| Nerve Tissue Proteins -- genetics | |
| Pakistan | |
| Phenotype | |
| Polymorphism, Genetic -- genetics | |
| RNA, Messenger -- genetics | |
| RNA, Messenger -- metabolism | |
| Note générale: | Journal Article |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0002-9297 |
| info:doi/10.1086/379085 | |
| info:pii/S0002-9297(07)61979-X | |
| info:scp/0242607170 | |
| info:pmid/14574646 | |
| PMC1180496 |
