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
Review Article
Marik, Binata; Bagga, Arvind; Sinha, Aditi; Hari, Pankaj; Sharma, Arundhati:
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update
Original Article
Sawal, Humaira Aziz; Harripaul, Ricardo; Mikhailov, Anna; Vleuten, Kayla; Naeem, Farooq; Nasr, Tanveer; Hassan, Muhammad Jawad; Vincent, John B.; Ayub, Muhammad; Rafiq, Muhammad Arshad
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families
Sangkhathat, Surasak; Laochareonsuk, Wison; Maneechay, Wanwisa; Kayasut, Kanita; Chiengkriwate, Piyawan:
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand
Case Report
Arican, Pinar; Cavusoglu, Dilek; Gencpinar, Pinar; Ozyilmaz, Berk; Ozdemir, Taha Resid; Dundar, Nihal Olgac:
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor
Mohammad, Ahmed N.; Atwal, Paldeep S.:
A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser
Shoukfeh, Omar; Richards, Alan B.; Prouty, Leonard A.; Hinrichsen, John; Spencer, William Rand; Langford, Marlyn P.:
Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome
Kırzıoglu, Zuhal; Oz, Esra:
Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl