Journal of Genetic Syndromes & Gene Therapy

Journal of Genetic Syndromes & Gene Therapy
Open Access

ISSN: ISSN: 2157-7412

Volume 7, Issue 2 (2016)

Case Report

Pages: 1 - 4

An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency

Pinar Zengin Akkus, Arda Çetinkaya, Deniz Çagdas Ayvaz, Mehmet Alikasifoglu, Ayfer Alikasifoglu, Nurgün Kandemir, Ilhan Tezcan, Gülen Eda Utine and Koray Boduroglu

DOI: 10.4172/2157-7412.1000287

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Case Report

Pages: 1 - 3

4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder

Maria Emília Pereira, Ricardo Caetano Silva, Ana Velosa and Bernardo Barahona-Corrêa

DOI: 10.4172/2157-7412.1000288

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Short Communication

Pages: 1 - 3

Use of Volumetric Capnography in Submaximal Exercise Test: What Did We Learn?

Paloma Lopes Francisco Parazzi, Fernando Augusto de Lima Marson, Maria Ângela Gonçalves Ribeiro, Camila Isabel Santos Schivinski and José Dirceu Ribeiro

DOI: 10.4172/2157-7412.1000289

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Research Article

Pages: 1 - 8

Can the p.Thr1174Ser Mutation in SCN1A Gene Shape Genetic Background in Epileptic Encephalopathies?

Dorota Hoffman Zacharskaa, Iwona Terczynska, Paulina Górka-Skoczylasa, Anna Winczewska Wiktor, Tomasz Mazurczak, Jolanta Góral, Agnieszka Charzewska, Kinga Duszyc and Elzbieta Szczepanik

DOI: 10.4172/2157-7412.1000290

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Case Report

Pages: 1 - 6

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Rabah Al-Mehisen, Ramy El Essely, Mouaz Al-Mallah, Maha A Al-Mohaissen and Tarek Kashour

DOI: 10.4172/2157-7412.1000291

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Research Article

Pages: 1 - 6

Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study

Xia Wang, Renee N. Tousignant, Albert M. Levin, Bethany Niell, Jaishri O. Blakeley, Maria T. Acosta and Bruce R. Korf

DOI: 10.4172/2157-7412.1000292

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Commentary

Pages: 1 - 2

Adeno-Associated Virus (AAV)-2 Genome in Arthrobacter sp. LS16?

Arumugam S and Jayandharan GR

DOI: 10.4172/2157-7412.1000293

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Image Article

Pages: 1 - 1

Bilateral Fibular Dimelia with Mirror Foot: An Additional Case Report

Ebtesam Abdalla and Israa Alaa-Eddin

DOI: 10.4172/2157-7412.1000i102

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