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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). [electronic resource] by
- Monroe, Glen R
- Kappen, Isabelle Fpm
- Stokman, Marijn F
- Terhal, Paulien A
- van den Boogaard, Marie-José H
- Savelberg, Sanne Mc
- van der Veken, Lars T
- van Es, Robert Jj
- Lens, Susanne M
- Hengeveld, Rutger C
- Creton, Marijn A
- Janssen, Nard G
- Mink van der Molen, Aebele B
- Ebbeling, Michelle B
- Giles, Rachel H
- Knoers, Nine V
- van Haaften, Gijs
Producer: 20170711
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. [electronic resource] by
- Romio, Leila
- Wright, Victoria
- Price, Karen
- Winyard, Paul J D
- Donnai, Dian
- Porteous, Mary E
- Franco, Brunella
- Giorgio, Giovanna
- Malcolm, Sue
- Woolf, Adrian S
- Feather, Sally A
Producer: 20030811
In:
Journal of the American Society of Nephrology : JASN vol. 14
Availability: No items available.
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