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Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. [electronic resource] by
- Izumi, Kosuke
- Takagi, Masaki
- Parikh, Aditi S
- Hahn, Amanda
- Miskovsky, Shana N
- Nishimura, Gen
- Torii, Chiharu
- Kosaki, Kenjiro
- Hasegawa, Tomonobu
- Neilson, Derek E
Producer: 20101115
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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Cohen syndrome in the Ohio Amish. [electronic resource] by
- Falk, Marni J
- Feiler, Heidi S
- Neilson, Derek E
- Maxwell, Kathleen
- Lee, James V
- Segall, Samantha K
- Robin, Nathaniel H
- Wilhelmsen, Kirk C
- Träskelin, Ann-Liz
- Kolehmainen, Juha
- Lehesjoki, Anna-Elina
- Wiznitzer, Max
- Warman, Matthew L
Producer: 20041222
In:
American journal of medical genetics. Part A vol. 128A
Availability: No items available.
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Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. [electronic resource] by
- Neilson, Derek E
- Adams, Mark D
- Orr, Caitlin M D
- Schelling, Deborah K
- Eiben, Robert M
- Kerr, Douglas S
- Anderson, Jane
- Bassuk, Alexander G
- Bye, Ann M
- Childs, Anne-Marie
- Clarke, Antonia
- Crow, Yanick J
- Di Rocco, Maja
- Dohna-Schwake, Christian
- Dueckers, Gregor
- Fasano, Alfonso E
- Gika, Artemis D
- Gionnis, Dimitris
- Gorman, Mark P
- Grattan-Smith, Padraic J
- Hackenberg, Annette
- Kuster, Alice
- Lentschig, Markus G
- Lopez-Laso, Eduardo
- Marco, Elysa J
- Mastroyianni, Sotiria
- Perrier, Julie
- Schmitt-Mechelke, Thomas
- Servidei, Serenella
- Skardoutsou, Angeliki
- Uldall, Peter
- van der Knaap, Marjo S
- Goglin, Karrie C
- Tefft, David L
- Aubin, Cristin
- de Jager, Philip
- Hafler, David
- Warman, Matthew L
Producer: 20090205
In:
American journal of human genetics vol. 84
Availability: No items available.
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