जेनेटिक सिंड्रोम और जीन थेरेपी जर्नल

जेनेटिक सिंड्रोम और जीन थेरेपी जर्नल
खुला एक्सेस

आईएसएसएन: ISSN: 2157-7412

आयतन 7, मुद्दा 2 (2016)

छवि लेख

Nager Syndrome: Report of Clinical and Radiological Findings in an Egyptian Infant

Ebtesam Abdalla

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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

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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

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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

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लघु संदेश

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

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

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

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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

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