Results
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Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele. [electronic resource] by
- Fichou, Yann
- Parchure, Disha
- Gogri, Harita
- Gopalkrishnan, Vidya
- Le Maréchal, Cédric
- Chen, Jian-Min
- Férec, Claude
- Madkaikar, Manisha
- Ghosh, Kanjaksha
- Kulkarni, Swati
Producer: 20181217
In:
Transfusion vol. 58
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Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. [electronic resource] by
- Le Gac, Gérald
- Gourlaouen, Isabelle
- Ronsin, Christophe
- Géromel, Vanna
- Bourgarit, Anne
- Parquet, Nathalie
- Quemener, Sylvia
- Le Maréchal, Cédric
- Chen, Jian-Min
- Férec, Claude
Producer: 20090112
In:
Blood vol. 112
Availability: No items available.
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151.
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Detection of two Alu insertions in the CFTR gene. [electronic resource] by
- Chen, Jian-Min
- Masson, Emmanuelle
- Macek, Milan
- Raguénès, Odile
- Piskackova, Tereza
- Fercot, Brigitte
- Fila, Libor
- Cooper, David N
- Audrézet, Marie-Pierre
- Férec, Claude
Producer: 20080408
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 7
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152.
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153.
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Weak D caused by a founder deletion in the RHD gene. [electronic resource] by
- Fichou, Yann
- Chen, Jian-Min
- Le Maréchal, Cédric
- Jamet, Déborah
- Dupont, Isabelle
- Chuteau, Claude
- Durousseau, Cécile
- Loirat, Marie-Jeanne
- Bailly, Pascal
- Férec, Claude
Producer: 20130124
In:
Transfusion vol. 52
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154.
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155.
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Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. [electronic resource] by
- Király, Orsolya
- Boulling, Arnaud
- Witt, Heiko
- Le Maréchal, Cédric
- Chen, Jian-Min
- Rosendahl, Jonas
- Battaggia, Cinzia
- Wartmann, Thomas
- Sahin-Tóth, Miklós
- Férec, Claude
Producer: 20070621
In:
Human mutation vol. 28
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156.
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157.
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Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis. [electronic resource] by
- Masson, Emmanuelle
- Paliwal, Sumit
- Bhaskar, Seema
- Prakash, Soami
- Scotet, Virginie
- Reddy, D Nageshwar
- Le Maréchal, Cédric
- Ratan Chandak, Giriraj
- Chen, Jian-Min
- Férec, Claude
Producer: 20100708
In:
Pancreas vol. 39
Availability: No items available.
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158.
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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. [electronic resource] by
- Miné, Manuèle
- Chen, Jian-Min
- Brivet, Michèle
- Desguerre, Isabelle
- Marchant, Dominique
- de Lonlay, Pascale
- Bernard, Aral
- Férec, Claude
- Abitbol, Marc
- Ricquier, Daniel
- Marsac, Cécile
Producer: 20070228
In:
Human mutation vol. 28
Availability: No items available.
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159.
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Assessing the pathological relevance of SPINK1 promoter variants. [electronic resource] by
- Boulling, Arnaud
- Witt, Heiko
- Chandak, Giriraj Ratan
- Masson, Emmanuelle
- Paliwal, Sumit
- Bhaskar, Seema
- Reddy, D Nageshwar
- Cooper, David N
- Chen, Jian-Min
- Férec, Claude
Producer: 20120111
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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