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Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. [electronic resource] by
- Hitzert, Marrit M
- Bos, Arend F
- Bergman, Klasien A
- Veldman, Alex
- Schwarz, Guenter
- Santamaria-Araujo, José Angel
- Heiner-Fokkema, Rebecca
- Sival, Deborah A
- Lunsing, Roelineke J
- Arjune, Sita
- Kosterink, Jos G W
- van Spronsen, Francjan J
Producer: 20121210
In:
Pediatrics vol. 130
Availability: No items available.
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11.
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. [electronic resource] by
- Tiosano, Dov
- Baris, Hagit N
- Chen, Anlu
- Hitzert, Marrit M
- Schueler, Markus
- Gulluni, Federico
- Wiesener, Antje
- Bergua, Antonio
- Mory, Adi
- Copeland, Brett
- Gleeson, Joseph G
- Rump, Patrick
- van Meer, Hester
- Sival, Deborah A
- Haucke, Volker
- Kriwinsky, Josh
- Knaup, Karl X
- Reis, André
- Hauer, Nadine N
- Hirsch, Emilio
- Roepman, Ronald
- Pfundt, Rolph
- Thiel, Christian T
- Wiesener, Michael S
- Aslanyan, Mariam G
- Buchner, David A
Producer: 20190930
In:
PLoS genetics vol. 15
Availability: No items available.
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12.
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Primrose syndrome: Characterization of the phenotype in 42 patients. [electronic resource] by
- Melis, Daniela
- Carvalho, Daniel
- Barbaro-Dieber, Tina
- Espay, Alberto J
- Gambello, Michael J
- Gener, Blanca
- Gerkes, Erica
- Hitzert, Marrit M
- Hove, Hanne B
- Jansen, Sandra
- Jira, Petr E
- Lachlan, Katherine
- Menke, Leonie A
- Narayanan, Vinodh
- Ortiz, Damara
- Overwater, Eline
- Posmyk, Renata
- Ramsey, Keri
- Rossi, Alessandro
- Sandoval, Renata Lazari
- Stumpel, Constance
- Stuurman, Kyra E
- Cordeddu, Viviana
- Turnpenny, Peter
- Strisciuglio, Pietro
- Tartaglia, Marco
- Unger, Sheela
- Waters, Todd
- Turnbull, Clare
- Hennekam, Raoul C
Producer: 20210604
In:
Clinical genetics vol. 97
Availability: No items available.
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