about
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndromeA 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome.Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube.Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies.Classical cornelia de lange syndromeSmith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.Cohesin and human disease.Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Bilateral ulnar agenesis: case report and review of the literature.
P2860
Q28200657-36EB5659-CD56-4FC6-8A49-E0AE2E002167Q30734646-447B22D8-161B-4093-A206-DBA583287238Q31983034-6326D64F-313E-4F48-A989-B09D5333BC7CQ31983050-F0E6CF0A-7073-4E47-A8FD-92ABC3C98094Q35791096-1189861E-3C37-425B-AC67-BFA06E7979DCQ36845521-54300889-BEA3-4805-A73D-63C40DCEDB17Q36973570-FFBF36F3-E5CA-4A77-877A-97C8BD3CC10FQ37431204-D5DBC477-55E7-4024-B5AE-F1F9B89729CBQ41031360-99C1CB89-E57C-4B77-A462-005EC7602EE1
P2860
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh-hant
name
Brachmann-de Lange syndrome "avant la lettre".
@en
Brachmann-de Lange syndrome "avant la lettre".
@nl
type
label
Brachmann-de Lange syndrome "avant la lettre".
@en
Brachmann-de Lange syndrome "avant la lettre".
@nl
prefLabel
Brachmann-de Lange syndrome "avant la lettre".
@en
Brachmann-de Lange syndrome "avant la lettre".
@nl
P356
P1476
Brachmann-de Lange syndrome "avant la lettre".
@en
P2093
R C Hennekam
P304
P356
10.1002/AJMG.1320520303
P577
1994-09-01T00:00:00Z