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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Ibarra-Ramírez, Marisol;Campos-Acevedo, Luis Daniel;Martínez de Villarreal, Laura E.:
Chromosomal Abnormalities of Interest in Turner Syndrome: An Update
Original Article
Prapasrat, Chanita;Onsod, Preyaporn;Korkiatsakul, Veerawat;Rerkamnuaychoke, Budsaba;Wattanasirichaigoon, Duangrurdee;Chareonsirisuthigul, Takol:
The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients
Gowda, Vykuntaraju K.;Raj, Anusha;Vamyanmane, Dhananjaya K.;Nagarajappa, Vani H.;Srinivas, Sahana M.;Tirumale, Rajalakshmi;Ranganath, Jaya;Gaddehosur, Chandan;Vishwanathan, Gurudatta B.:
Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
Akin-Bali, Dilara Fatma;Doganay Erdogan, Beyza;Aslar Oner, Deniz;Mahmud, Akkan;Tasdelen, Serpil;Kurekci, Emin;Akar, Nejat;Ozdag Sevgili, Hilal:
Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia
Machado, Roberta Ismael Lacerda;Souza, Paulo Victor Sgobbi de;Farias, Igor Braga;Badia, Bruno de Mattos Lombardi;Filho, José Marcos Vieira de Albuquerque;Lima, Ricello José Vieira;Pinto, Wladimir Bocca Vieira de Rezende;Oliveira, Acary Souza Bulle:
Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil
Case-Based Review
Poon, Kok-Siong;Tan, Karen Mei-Ling;Zacharin, Margaret;Ho, Cindy Wei-Li:
A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl
Xia, Changqing;Kumar, Dibyendu;You, Bei;Streck, Deanna L.;Osborne, Lisa;Dermody, James;Jiang, Jie-Gen;Pletcher, Beth A.:
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature
Singanamalla, Bhanudeep;Kesavan, Shivan;Aggarwal, Divya;Chatterjee, Debajyoti;Urtizberea, Andoni;Suthar, Renu:
Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy
Sharma, Sonia;Gupta, Shailesh;Mehta, A. P.;Sidana, Poonam:
Infantile Galactosialidosis with Novel Mutation: An Early Presentation
Kaur, Tripat;Sriram, Chenni S.;Prasanna, Priyanka;Kohli, Utkarsh:
Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome
Sturgis, Morgan R.;Wrobel, Kathryn E.;Bosco, Gianna N.;Jones, Carolyn H.:
Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome
Cammarata-Scalisi, Francisco;Matysiak, Uta;Willoughby, Colin E.;Ruzaike, Gunda;Cárdenas Tadich, Antonio;Araya Castillo, Maykol;Zara-Chirinos, Carmen;Bracho, Ana;Avendaño, Andrea;Jilani, Houweyda;Callea, Michele:
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1
Chaudhry, Chakshu;Kumari, Divya;Panigrahi, Inusha;Kaur, Parminder:
Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations
Candelaria, Gabriela de Toledo Passos;Antunes, Alexandre de A.;Pastorino, Antonio C.;Dorna, Mayra de B.;Zanardo, Evelin A.;Dias, Alexandre T.;Sugayama, Sofia M. M.;Odone-Filho, Vicente;Kulikowski, Leslie D.;Garanito, Marlene P.:
Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss
Letter to the Editor
John, Elizabeth Mary;Sathyan, Sajina;Pournami, Femitha;Prithvi, Ajai Kumar;Nandakumar, Anand;Prabhakar, Jyothi;Jain, Naveen:
CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease