Results
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10061.
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10062.
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10063.
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10064.
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10065.
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10066.
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10067.
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10068.
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10069.
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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. [electronic resource] by
- Raas-Rothschild, Annick
- Wanders, Ronald J A
- Mooijer, Petra A W
- Gootjes, Jeannette
- Waterham, Hans R
- Gutman, Alisa
- Suzuki, Yasuyuki
- Shimozawa, Nobuyuki
- Kondo, Naomi
- Eshel, Gideon
- Espeel, Marc
- Roels, Frank
- Korman, Stanley H
Producer: 20020418
In:
American journal of human genetics vol. 70
Availability: No items available.
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10070.
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Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling. [electronic resource] by
- Gilbert, B
- Yardin, C
- Briault, S
- Belin, V
- Lienhardt, A
- Aubard, Y
- Battin, J
- Servaud, M
- Philippe, H J
- Lacombe, D
Producer: 20030213
In:
Prenatal diagnosis vol. 22
Availability: No items available.
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10071.
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The multidrug-resistant human pathogen Clostridium difficile has a highly mobile, mosaic genome. [electronic resource] by
- Sebaihia, Mohammed
- Wren, Brendan W
- Mullany, Peter
- Fairweather, Neil F
- Minton, Nigel
- Stabler, Richard
- Thomson, Nicholas R
- Roberts, Adam P
- Cerdeño-Tárraga, Ana M
- Wang, Hongmei
- Holden, Matthew T G
- Wright, Anne
- Churcher, Carol
- Quail, Michael A
- Baker, Stephen
- Bason, Nathalie
- Brooks, Karen
- Chillingworth, Tracey
- Cronin, Ann
- Davis, Paul
- Dowd, Linda
- Fraser, Audrey
- Feltwell, Theresa
- Hance, Zahra
- Holroyd, Simon
- Jagels, Kay
- Moule, Sharon
- Mungall, Karen
- Price, Claire
- Rabbinowitsch, Ester
- Sharp, Sarah
- Simmonds, Mark
- Stevens, Kim
- Unwin, Louise
- Whithead, Sally
- Dupuy, Bruno
- Dougan, Gordon
- Barrell, Bart
- Parkhill, Julian
Producer: 20060911
In:
Nature genetics vol. 38
Availability: No items available.
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10072.
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Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. [electronic resource] by
- Faivre, Laurence
- Williamson, Kathleen A
- Faber, Valérie
- Laurent, Nicole
- Grimaldi, Marianne
- Thauvin-Robinet, Christel
- Durand, Christine
- Mugneret, Francine
- Gouyon, Jean-Bernard
- Bron, Alain
- Huet, Frédéric
- Hayward, Caroline
- Heyningen, Veronica van
- Fitzpatrick, David R
Producer: 20060530
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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10073.
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10074.
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10075.
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10076.
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10077.
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10078.
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10079.
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10080.
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