Journal of Pediatric Genetics

Issue 03 · September 2017

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Issue
Erratum
e1
Gaboon, Nagwa E. A.; Bakur, Khadijah H.; Edrees, Alaa Y.; Al-Aama, Jumana Y.: Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

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Review Article
129
Vrečar, Irena; Innes, Josie; Jones, Elizabeth A.; Kingston, Helen; Reardon, William; Kerr, Bronwyn; Clayton-Smith, Jill; Douzgou, Sofia: Further 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

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Original Article
142
TP, Kruthika-Vinod; Muntaj, Shaik; Devaraju, K. S.; Kamate, M.; Vedamurthy, A. B.: Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

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149
A. Gaboon, Nagwa E.; Bakur, Khadijah H.; Edrees, Alaa Y.; Al-Aama, Jumana Y.: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

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155
Mullegama, Sureni V.; Alaimo, Joseph T.; Fountain, Michael D.; Burns, Brooke; Balog, Amanda Hebert; Chen, Li; Elsea, Sarah H.: RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

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Supplementary Material

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165
Mendez-Rosado, Luis Alberto; Lantigua, Araceli; Galarza, Juan; Hamid Al-Rikabi, Ahmed B.; Ziegler, Monika; Liehr, Thomas: Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

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169
Zhang, Rong; Knapp, Michael; Kause, Franziska; Reutter, Heiko; Ludwig, Michael: Role of the LF-SINE–Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

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Case Report
174
Şahin, Yavuz; Özcan, Aysegül: First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X

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177
Salian, Smrithi; Shukla, Anju; Nishimura, Gen; Girisha, Katta M.: Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

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181
Fontana, P.; Melis, D.; D'Amico, A.; Cappuccio, G.; Auletta, G.; Vassallo, P.; Genesio, R.; Nitsch, L.; Buffolano, W.: Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

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186
Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Kasole, Toni Lubala; Ilunga, Erick Kasamba; Asani, Bienvenu Yogolelo; Tshilobo, Prosper Lukusa; Muenze, Prosper Kalenga; Reychler, Hervé; Katombe, François Tshilombo; Devriendt, Koenraad: Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

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191
Nampoothiri, Sheela; Hebbar, Malavika; Roy, Arun Grace; Kochumon, Sheena P.; Bielas, Stephanie; Shukla, Anju; Girisha, Katta M.: Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

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194
Radhakrishnan, Periyasamy; Nayak, Shalini S.; Pai, Muralidhar V.; Shukla, Anju; Girisha, Katta M.: Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

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198
Patil, Siddaramappa J.; Somashekar, Puneeth H.; Shukla, Anju; Siddaiah, Satish; Bhat, Venkatraman; Girisha, Katta M.; Rao, Pooja N.: Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation

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