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内部出版物
在“
SpringerLink电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
1.
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a
CCBE1
Mutation that does not Prevent Protein Expression
作者:
Carolyn C. Jackson
;
Lucy Best
;
Lazaro Lorenzo…
关键词:
Hennekam Syndrome
;
lymphedema
;
lymphangiectasia
;
CCBE1
刊名:Journal of Clinical Immunology
出版年:2016
2.
A novel
CCBE1
mutation leading to a mild form of hennekam syndrome: case report and review of the literature
作者:
Patrick Frosk
;
Bernard Chodirker
;
Louise Simard
;
Wael El-Matary…
关键词:
CCBE1
;
Hypoalbuminemia
;
Lymphangiectasia
;
Lymphatic Dysplasia
;
Polydactyly
;
Protein
;
losing Enteropathy
刊名:BMC Medical Genetics
出版年:2015
3.
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
作者:
Mari?lle Alders (1)
Lihadh Al-Gazali (2)
Isabelle Cordeiro (3)
Bruno Dallapiccola (4)
Livia Garavelli (5)
Beyhan Tuysuz (6)
Faranak Salehi (1)
Martin A. Haagmans (1)
Olaf R. Mook (1)
Charles B. Majoie (7)
Marcel M. Mannens (1)
Raoul C. Hennekam (1) (8)
刊名:Human Genetics
出版年:2014
4.
Linkage and sequence analysis indicate that
CCBE1
is mutated in recessively inherited generalised lymphatic dysplasia
作者:
Fiona Connell
;
Kamini Kalidas
;
Pia Ostergaard
;
Glen Brice
;
Tessa Homfray
;
Lesley Roberts
;
David J. Bunyan
;
Sally Mitton
;
Sahar Mansour and Peter Mortimer
;
et al.
刊名:Human Genetics
出版年:2010
5.
Erratum to: Linkage and sequence analysis indicate that
CCBE1
is mutated in recessively inherited generalised lymphatic dysplasia
作者:
Fiona Connell
;
Kamini Kalidas
;
Pia Ostergaard
;
Glen Brice
;
Tessa Homfray
;
Lesley Roberts
;
David J. Bunyan
;
Sally Mitton
;
Sahar Mansour and Peter Mortimer
;
et al.
刊名:Human Genetics
出版年:2010
1
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