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Author/Creator Vogt G. Academic Editor.

2. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations. (25th July 2013)

Authors:
Sirisena, Nirmala D.; Wijetunge, U. Kalpani S.; de Silva, Ramya; Dissanayake, Vajira H. W.
Other Names:
Bunyan D. J. Academic Editor.; Iovannisci D. M. Academic Editor.; Sazci A. Academic Editor.; Vogt G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2013(2013)
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Record Type:
Journal Article
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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
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. (3rd March 2014)

Authors:
Fitzgerald, Kristi K.; Bhat, Abdul Majeed; Conard, Katrina; Hyland, James; Pizarro, Christian
Other Names:
Cheng C.-W. Academic Editor.; Fenger M. Academic Editor.; Huang C.-S. Academic Editor.; Morrison P. Academic Editor.; Vogt G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2014(2014)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes. (16th May 2013)

Authors:
Malvestiti, Francesca; Benedicenti, Francesco; De Toffol, Simona; Chinetti, Sara; Höller, Adelheid; Grimi, Beatrice; Fichtel, Gertrud; Braghetto, Monica; Agrati, Cristina; Bonaparte, Eleonora; Maggi, Federico; Simoni, Giuseppe; Grati, Francesca Romana
Other Names:
Chae S.-C. Academic Editor.; Cheng C.-W. Academic Editor.; Cotter P. D. Academic Editor.; Fenger M. Academic Editor.; Morrison P. Academic Editor.; Vogt G. Academic Editor.; Wang X. 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) ↗

7. Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes. (11th April 2012)

Authors:
Rao Kandukuri, Lakshmi; Padmalatha, Venkata; Kanakavalli, Murthy; Turlapati, Raseswari; Swapna, Mangalipally; Vidyadhari, Metuku; Saranaya, Govindaraghavan; Himaja, Kattera; Deenadayal, Mamata; Kumar Sethi, Bipin; Deb, Prasun; Gupta, Nalini; Chakraborthy, Baidyanath; Nallari, Pratibha; Singh, Lalji
Other Names:
Baumer A. Academic Editor.; Cheng C.-W. Academic Editor.; Cotter P. D. Academic Editor.; Saccucci P. Academic Editor.; Sazci A. Academic Editor.; Vogt G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2012(2012)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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