DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 03 · Volume 06 · September 2017 DOI: 10.1055/s-007-34525

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

    • 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

    • 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

  • 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

  • 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

    Supplementary Tables (PDF)
  • 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

  • 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

    • Case Report

  • 174
    Şahin, Yavuz; Özcan, Aysegül:

    First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X

  • 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

  • 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?

  • 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

  • 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

  • 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

  • 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

    Supplementary Figures (PDF) Supplementary Table (PDF)