scholarly article | Q13442814 |
P2093 | author name string | I Järvelä | |
A Orpana | |||
S Ala-Mello | |||
P Kristo | |||
A Rakkolainen | |||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Finland | Q33 |
oral-facial-digital syndrome | Q3508783 | ||
P304 | page(s) | 292-6 | |
P577 | publication date | 2002-04-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1 | |
P478 | volume | 39 |
Q37491993 | A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report |
Q34539684 | A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |
Q24299464 | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
Q24655227 | Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study |
Q36122430 | Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) |
Q91650544 | Distinct Roles of TRAPPC8 and TRAPPC12 in Ciliogenesis via Their Interactions With OFD1 |
Q40330534 | Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II) |
Q38641254 | Mouse Models of Rare Craniofacial Disorders. |
Q39849276 | Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients |
Q39688450 | Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts |
Q33872321 | Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability |
Q24320320 | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin |
Q24303311 | Ofd1, a human disease gene, regulates the length and distal structure of centrioles |
Q28743873 | Regional selection acting on the OFD1 gene family |
Q36891722 | Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma |
Search more.