Journal of Pediatric Genetics (ISSN: 2146-4596) now in

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JOURNAL OF PEDIATRIC GENETICS

Official Journal of the World Society of Child Science, Turkiye


LAST ISSUE

Volume 6, Number 4, Year 2017


Review Article
Chouiter, Leila; Nadifi, Sellama:
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma


Original Articles
Kammoun, Molka; Slimani, Wafa; Hannachi, Hanene; Bibi, Mohamed; Saad, Ali; Mougou-Zerelli, Soumaya:
Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature


Singh, Mable Misha; Kumar, Ravindra; Tewari, Satyendra; Agarwal, Sarita:
Determining Nt-proBNP Levels with Diastolic Dysfunction in Thalassemia Major Patients


Novikova, Irina; Sen, Paushpala; Manzardo, Ann; Butler, Merlin G.:
Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review


Lu, Yongping; Chong, Pin Fee; Kira, Ryutaro; Seto, Toshiyuki; Ondo, Yumiko; Shimojima, Keiko; Yamamoto, Toshiyuki:
Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome


Casse Reports
Mostafa, Mostafa Ibrahim; Abouzaid, Maha Rashed; Thomas, Manal Micheal; El-Kamah, Ghada Yousef:
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?


Bozdogan, Sevcan Tug; Bisgin, Atil:
A Rare Double Aneuploidy Case (Down–Klinefelter)


Yesodharan, Dhanya; Sudarsanan, Bindu; Jojo, Annie; Abraham, Mohan; Bhavani, Nisha; Mathews, Hima; Nampoothiri, Sheela:
Plexiform Neurofibroma of Clitoris


Kuthiroly, Shwetha; Yesodharan, Dhanya; Ghosh, Aneesh; White, Kenneth E.; Nampoothiri, Sheela:
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues


Khedr, Salwa; Jazaerly, Tarek; Kostadinov, Stefan
Placental Teratoma, Omphalomesenteric Duct Remnant, or Intestinal Organoid (Enteroid) Differentiation: A Diagnostic Dilemma


Poterico, Julio A.; Vásquez, Flor; Chávez-Pastor, Miguel; Trubnykova, Milana; Chavesta, Félix; Chirinos, Jenny; Salcedo, Nancy; Mena, Rosmery; Cubas, Sulema; González, Rocío; Alvariño, Rossana; Abarca-Barriga, Hugo:
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria