about
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosisGenetic isolates in ophthalmic diseases.Clinical variability of genetic isolates of Cohen syndrome.Autism spectrum disorders: the quest for genetic syndromes.Ocular involvement in primary immunodeficiency diseases.High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.The Human Obesity Gene Map: The 2004 Update
P2860
Q37044367-9C3E80FA-EFFD-4C86-BEF2-B6DEBED27214Q37324407-12628C44-38E4-428D-88CA-8FAC588966DFQ37854797-95276FF2-D28F-4DD5-A166-93459DEF2AE1Q38104700-9BB9651D-64B5-47ED-925D-A7DAF261FEAFQ38167633-53484B2E-C379-448C-B658-C70F3C0DDA99Q41733577-B5C7FA4E-07C8-452A-A32A-CCC6598E5E60Q41929730-63B99EFA-6C4F-4BBC-96AB-B06CB61D987FQ43168549-3889BA25-BC10-4CA7-9A66-345229965BF9Q57316399-8CFFE446-CFE8-4FDC-93BB-C53417793856
P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Cohen syndrome in the Ohio Amish.
@en
Cohen syndrome in the Ohio Amish.
@nl
type
label
Cohen syndrome in the Ohio Amish.
@en
Cohen syndrome in the Ohio Amish.
@nl
prefLabel
Cohen syndrome in the Ohio Amish.
@en
Cohen syndrome in the Ohio Amish.
@nl
P2093
P2860
P356
P1476
Cohen syndrome in the Ohio Amish.
@en
P2093
Ann-Liz Träskelin
Derek E Neilson
Heidi S Feiler
James V Lee
Juha Kolehmainen
Kathleen Maxwell
Kirk C Wilhelmsen
Marni J Falk
Matthew L Warman
Max Wiznitzer
P2860
P356
10.1002/AJMG.A.30033
P407
P577
2004-07-01T00:00:00Z