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4781.
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4782.
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4787.
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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. [electronic resource] by
- Vazna, Alzbeta
- Beesley, Clare
- Berna, Linda
- Stolnaja, Larisa
- Myskova, Helena
- Bouckova, Michaela
- Vlaskova, Hana
- Poupetova, Helena
- Zeman, Jiri
- Magner, Martin
- Hlavata, Anna
- Winchester, Bryan
- Hrebicek, Martin
- Dvorakova, Lenka
Producer: 20090618
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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4788.
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4789.
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Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. [electronic resource] by
- Lamonica, Dionisia A C
- Abramides, Dagma V M
- Maximino, Luciana P
- Gejão, Mariana G
- da Silva, Greyce K
- Ferreira, Amanda T
- Furlan, Renata H
- Giacheti, Célia M
- Barros-Neto, Plínio A
- Richieri-Costa, A
Producer: 20090618
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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4790.
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Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. [electronic resource] by
- Kratz, Christian P
- Zampino, Giuseppe
- Kriek, Marjolein
- Kant, Sarina G
- Leoni, Chiara
- Pantaleoni, Francesca
- Oudesluys-Murphy, Anne Marie
- Di Rocco, Concezio
- Kloska, Stephan P
- Tartaglia, Marco
- Zenker, Martin
Producer: 20090618
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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4800.
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