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JOURNAL OF PEDIATRIC GENETICS

Official Journal of the World Society of Child Science, Turkiye


LAST ISSUE

Volume 6, Number 3, Year 2017


Review Article
S. Douzgou, I. Vrečar, J. Innes, E. Jones, H. Kingston, W. Reardon, B. Kerr, and J. Clayton-Smith
Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech and Involuntary Movements

Original Articles
Kruthika-Vinod T.P, M. Shaik, Devaraju K.S, M. Kamate, and Vedamurthy A.B
Genetic Screening of Selected Disease-causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

N. E. Gaboon, K. Bakur, A. Edrees, and J. Y. Alaama
Attitude Towards Prenatal Testing and Pregnancy Termination Among Health Professionals and Medical Students in Saudi Arabia

S. Elsea, S. Mullegama, J. T. Alaimo, M. Fountain, B. Burns, A. Balog, and L. Chen
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome

T. Liehr, L. A. Mendez-Rosado, A. Lantigua, J. Galarza, A. B. Hamid Al-Rikabi, and M. Ziegler
Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion Into 5p13.1 in a Severely Affected Boy

M. Ludwig, R. Zhang, M. Knapp, F. Kause, and H. Reutter
The Role of the LF-SINE Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

Casse Reports
Y. Sahin and A. Ozcan
First Report of Two Rare Entity in a Family: 49,XXXXY and 45,X

K. M Girisha, S. Salian, A. Shukla, and G. Nishimura
c.298G>A Mutation in IHH Gene in a Child with Severe Form of Brachydactyly Type A1

P. Fontana, D. Melis, A. D'Amico, G. Cappuccio, G. Auletta, P. Vassallo, R. Genesio, L. Nitsch, and W. Buffolano
Sensorineural Hearing Loss in a Patient Affected by Congenital CMV. Is it Useful to Identify Comorbid Pathologies?

S. Mbuyi-Musanzayi, A. Lumaka, E. K. Ilunga, T. L. Kasole, B. Y. Asani, P. Lukusa, P. K. Muenze, H. Reychler, F. T. Katombe, and K. Devriendt
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data From a First Case Diagnosed in Central Africa

K. M. Girisha, S. Nampoothiri, M. Hebbar, A. G. Roy, S. P. Kochumon, and S. Bielas, A. Shukla
Hyperphosphatasia with Mental Retardation Syndrome due to a Novel Mutation in PGAP3

K. M. Girisha, P. Radhakrishnan, S. S. Nayak, M. V. Pai, and A. Shukla
Occurrence of Synpolydactyly and Omphalocele in a Fetus with Mutation in HOXD13

S. Patil, P. H. Somshekar, A. Shukla, S. Siddaiah, V. Bhat, K. M. Girisha, and P. N. Rao
Clinical Variability In Familial X - Linked Ohdo Syndrome - Maat-Kievit-Brunner Type With MED12 Mutation