DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 04 · Dezember 2015 DOI: 10.1055/s-005-30588

Original Article

  • 187
    Khelifa, Hela Ben; Kammoun, Molka; Hannachi, Hanene; Soyah, Najla; Hammami, Saber; Elghezal, Hatem; Sanlaville, Damien; Saad, Ali; Mougou-Zerelli, Soumaya:

    Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits

  • 194
    Cangul, Hakan; Aydin, Banu K.; Bas, Firdevs:

    A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family

    • Case Report

  • 199
    Manvelyan, Marine; Simonyan, Izabella; Hovhannisyan, Galina; Aroutiounian, Rouben; Hamid, Ahmed B.; Liehr, Thomas:

    A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement

  • 201
    Atwal, Paldeep S.; Macmurdo, C.:

    A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome

  • 204
    Valentin, Leonardo I.; Perez, Luis; Masand, Prakash:

    Hepatoblastoma Associated with Trisomy 18

  • 207
    Atwal, Paldeep S.:

    A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18