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Single Gland, Ectopic Location: Adenomas are Common Causes of Primary Hyperparathyroidism in Children and Adolescents. [electronic resource] by
- Rampp, Robert D
- Mancilla, Edna E
- Adzick, N Scott
- Levine, Michael A
- Kelz, Rachel R
- Fraker, Douglas L
- Iyer, Pallavi
- Lindeman, Brenessa M
- Mejia, Vicente A
- Chen, Herbert
- Wachtel, Heather
Producer: 20210112
In:
World journal of surgery vol. 44
Availability: No items available.
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7.
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Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. [electronic resource] by
- Visser, W Edward
- Jansen, Jurgen
- Friesema, Edith C H
- Kester, Monique H A
- Mancilla, Edna
- Lundgren, Johan
- van der Knaap, Marjo S
- Lunsing, Roelineke J
- Brouwer, Oebele F
- Visser, Theo J
Producer: 20090317
In:
Human mutation vol. 30
Availability: No items available.
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8.
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Impaired cell cycle regulation of the osteoblast-related heterodimeric transcription factor Runx2-Cbfbeta in osteosarcoma cells. [electronic resource] by
- San Martin, Inga A
- Varela, Nelson
- Gaete, Marcia
- Villegas, Karina
- Osorio, Mariana
- Tapia, Julio C
- Antonelli, Marcelo
- Mancilla, Edna E
- Pereira, Barry P
- Nathan, Saminathan S
- Lian, Jane B
- Stein, Janet L
- Stein, Gary S
- van Wijnen, Andre J
- Galindo, Mario
Producer: 20091113
In:
Journal of cellular physiology vol. 221
Availability: No items available.
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9.
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Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. [electronic resource] by
- Jansen, Jurgen
- Friesema, Edith C H
- Kester, Monique H A
- Milici, Carmelina
- Reeser, Maarten
- Grüters, Annette
- Barrett, Timothy G
- Mancilla, Edna E
- Svensson, Johan
- Wemeau, Jean-Louis
- Busi da Silva Canalli, Maria Heloisa
- Lundgren, Johan
- McEntagart, Meriel E
- Hopper, Neil
- Arts, Willem Frans
- Visser, Theo J
Producer: 20070718
In:
The Journal of clinical endocrinology and metabolism vol. 92
Availability: No items available.
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10.
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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. [electronic resource] by
- Friesema, Edith C H
- Grueters, Annette
- Biebermann, Heike
- Krude, Heiko
- von Moers, Arpad
- Reeser, Maarten
- Barrett, Timothy G
- Mancilla, Edna E
- Svensson, Johan
- Kester, Monique H A
- Kuiper, George G J M
- Balkassmi, Sahila
- Uitterlinden, André G
- Koehrle, Josef
- Rodien, Patrice
- Halestrap, Andrew P
- Visser, Theo J
Producer: 20041122
In:
Lancet (London, England) vol. 364
Availability: No items available.
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11.
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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. [electronic resource] by
- Adang, Laura A
- Sherbini, Omar
- Ball, Laura
- Bloom, Miriam
- Darbari, Anil
- Amartino, Hernan
- DiVito, Donna
- Eichler, Florian
- Escolar, Maria
- Evans, Sarah H
- Fatemi, Ali
- Fraser, Jamie
- Hollowell, Leslie
- Jaffe, Nicole
- Joseph, Christopher
- Karpinski, Mary
- Keller, Stephanie
- Maddock, Ryan
- Mancilla, Edna
- McClary, Bruce
- Mertz, Jana
- Morgart, Kiley
- Langan, Thomas
- Leventer, Richard
- Parikh, Sumit
- Pizzino, Amy
- Prange, Erin
- Renaud, Deborah L
- Rizzo, William
- Shapiro, Jay
- Suhr, Dean
- Suhr, Teryn
- Tonduti, Davide
- Waggoner, Jacque
- Waldman, Amy
- Wolf, Nicole I
- Zerem, Ayelet
- Bonkowsky, Joshua L
- Bernard, Genevieve
- van Haren, Keith
- Vanderver, Adeline
Producer: 20180518
In:
Molecular genetics and metabolism vol. 122
Availability: No items available.
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