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45941.
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45942.
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45943.
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45944.
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45945.
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45946.
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45947.
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45948.
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45949.
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Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. [electronic resource] by
- Basel-Vanagaite, Lina
- Attia, Revital
- Ishida-Yamamoto, Akemi
- Rainshtein, Limor
- Ben Amitai, Dan
- Lurie, Raziel
- Pasmanik-Chor, Metsada
- Indelman, Margarita
- Zvulunov, Alex
- Saban, Shirley
- Magal, Nurit
- Sprecher, Eli
- Shohat, Mordechai
Producer: 20070405
In:
American journal of human genetics vol. 80
Availability: No items available.
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45950.
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Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. [electronic resource] by
- Mayr, Johannes A
- Merkel, Olaf
- Kohlwein, Sepp D
- Gebhardt, Boris R
- Böhles, Hansjosef
- Fötschl, Ulrike
- Koch, Johannes
- Jaksch, Michaela
- Lochmüller, Hanns
- Horváth, Rita
- Freisinger, Peter
- Sperl, Wolfgang
Producer: 20070405
In:
American journal of human genetics vol. 80
Availability: No items available.
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45951.
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45952.
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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. [electronic resource] by
- Pasutto, Francesca
- Sticht, Heinrich
- Hammersen, Gerhard
- Gillessen-Kaesbach, Gabriele
- Fitzpatrick, David R
- Nürnberg, Gudrun
- Brasch, Frank
- Schirmer-Zimmermann, Heidemarie
- Tolmie, John L
- Chitayat, David
- Houge, Gunnar
- Fernández-Martínez, Lorena
- Keating, Sarah
- Mortier, Geert
- Hennekam, Raoul C M
- von der Wense, Axel
- Slavotinek, Anne
- Meinecke, Peter
- Bitoun, Pierre
- Becker, Christian
- Nürnberg, Peter
- Reis, André
- Rauch, Anita
Producer: 20070405
In:
American journal of human genetics vol. 80
Availability: No items available.
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45953.
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45954.
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45955.
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45956.
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45960.
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