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Author/Creator Grant S. F. Academic Editor.

1. An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva. (8th April 2013)

Authors:
Herrera-Esparza, Rafael; Pacheco-Tovar, Deyanira; Bollain-y-Goytia, Juan José; Torres del Muro, Felipe; Ramírez-Sandoval, Roxana; Pacheco-Tovar, María Guadalupe; Castañeda-Ureña, María; Avalos-Díaz, Esperanza
Other Names:
Grant S. F. Academic Editor.; Ichikawa S. Academic Editor.; Sazci A. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2013(2013)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Delineation of 2q32q35 Deletion Phenotypes: Two Apparent "Proximal" and "Distal" Syndromes. (9th June 2013)

Authors:
Mc Cormack, Adrian; Taylor, Juliet; Gregersen, Nerine; George, Alice M.; Love, Donald R.
Other Names:
Cotter P. D. Academic Editor.; Grant S. F. Academic Editor.; Iovannisci D. M. Academic Editor.; López Ginés C. Academic Editor.; Velagaleti G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2013(2013)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient. (7th July 2013)

Authors:
Taboas, Melisa; Fernández, Cecilia; Belli, Susana; Buzzalino, Noemi; Alba, Liliana; Dain, Liliana
Other Names:
Fenger M. Academic Editor.; Grant S. F. Academic Editor.; Vogt G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2013(2013)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene. (17th April 2013)

Authors:
Dias, Catarina; Isidoro, Lara; Santos, Mafalda; Santos, Helena; Marques, Jorge Sales
Other Names:
Bunyan D. J. Academic Editor.; Cheng C.-W. Academic Editor.; Cotter P. D. Academic Editor.; Grant S. F. Academic Editor.; Velagaleti G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2013(2013)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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