Journal of Pediatric Genetics 2015_04-_187-208.html Ocak 27, 2025’' te gönderildi osman tarafından Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 04 · December 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 Full Text HTML PDF (3672 kb) 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 Full Text HTML PDF (178 kb) 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 Full Text HTML PDF (374 kb) 201 Atwal, Paldeep S.; Macmurdo, C.: A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome Full Text HTML PDF (175 kb) 204 Valentin, Leonardo I.; Perez, Luis; Masand, Prakash: Hepatoblastoma Associated with Trisomy 18 Full Text HTML PDF (455 kb) 207 Atwal, Paldeep S.: A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18 Full Text HTML PDF (481 kb) osman 2017_03-_129-204___e1.html 2014_01-_1-44.html