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内部出版物
SpringerLink电子期刊(3)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
11
条
1.
Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man
作者:
Aless
;
ro De Luca
;
Anna Sarkozy
;
Federica Consoli
;
Andrea De Zorzi
;
Rita
Mingarelli
;
Maria Cristina Digilio
;
Bruno Marino
;
Bruno Dallapiccola
关键词:
Criss-cross heart
;
Connexin 43
;
Congenital heart defect
;
Cx43
;
GJA5
;
Mutation
刊名:International Journal of Cardiology
出版年:2010
2.
A 6-year-old child with Fryns syndrome: Further delineation of the natural history of the condition in survivors
作者:
Maria Lisa Dentici
;
Francesco Brancati
;
Rita
Mingarelli
;
Bruno Dallapiccola
关键词:
Fryns syndrome
;
Diagnostic criteria
;
Psychomotor delay
;
Cloudy cornea
刊名:European Journal of Medical Genetics
出版年:2009
3.
Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11
作者:
Maria Cristina Digilio
;
Emanuela Conti
;
Anna Sarkozy
;
Rita
Mingarelli
;
Tania Dottorini
;
Bruno Marino
;
Antonio Pizzuti
;
Bruno Dallapiccola
刊名:The American Journal of Human Genetics
出版年:2002
4.
Genomic Organization, Physical Mapping, and Involvement in Yq Microdeletions of the VCY2 (BPY 2) Gene
作者:
Stuppia
;
Liborio
;
Gatta
;
Valentina
;
Fogh
;
Isabella
;
Gaspari
;
Anna
Rita
;
Morizio
;
Elisena
;
Mingarelli
;
Rita
;
et. al.
刊名:Genomics
出版年:2001
5.
Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome
作者:
Maria Gabriela Obregon
;
Maria Cristina Digilio
;
Rita
Mingarelli
;
Concettina Pacifico
;
Luigi Tieri
;
Aldo Giannotti
;
Bruno Dallapiccola
刊名:American Journal of Otolaryngology
出版年:2000
6.
Associated Cardiac Anomalies in Isolated and Syndromic Patients With Tetralogy of Fallot
作者:
Marino
;
Bruno
;
Digilio
;
Maria Cristina
;
Grazioli
;
Sabina
;
Formigari
;
Roberto
;
Mingarelli
;
Rita
;
et. al.
刊名:The American Journal of Cardiology
出版年:1996
7.
Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11?
作者:
Maria C. Digilio
;
Bruno Marino
;
Rita
Mingarelli
;
Giuseppe Novelli
;
Francesca Amati
;
Aldo Mari
;
Aldo Giannotti
;
Bruno Dallapiccola
刊名:Journal of the American College of Cardiology
出版年:1996
8.
Tetralogy of fallot with and without pulmonary atresia: Different prevalence of genetic syndromes
作者:
Maria C. Digilio
;
Bruno Marino
;
Sabina Grazioli
;
Rita
Mingarelli
;
Giuseppe Novelli
;
Aldo Giannotti
;
Bruno Dallapiccola
刊名:Journal of the American College of Cardiology
出版年:1996
1
按检索点细分(8)
作者(8)
按出版年细分(8)
2010年(1)
2009年(1)
2002年(1)
2001年(1)
2000年(1)
2000年及以前(3)
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