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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
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Srivastava, Priyanka;Kaur, Parminder;Daniel, Roshan;Chaudhry, Chakshu;Kaur, Anit;Seth, Saurabh;Kumari, Divya;Kaur, Anupriya;Panigrahi, Inusha:
Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay
de Carvalho, Acacia Fernandes Lacerda;Alves, Esmeralda Santos;Pitanga, Paula Monique Leite;Ribeiro, Erlane Marques;Doriqui, Maria Juliana Rodovalho;Toralles, Maria Betânia Pereira;Topázio, Bianca Arcaro;dos Santos, Jéssica Fernandes;de Lima, Renata Lúcia Leite Ferreira;Kulikowski, Leslie Domenici;Acosta, Angelina Xavier:
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil
Demirhan, Osman;Hergüner, Özlem;Tunç, Erdal:
A Cytogenetic Study of Turkish Children with Global Developmental Delay
Almarzooqi, Layla;Schmidt, Esther;Schmidt, Heinrich;Dubinski, Ilja:
Abnormalities of the Eyelashes in Turner's Syndrome
Chhajed, Monika;Gunasekaran, Pradeep Kumar;Bhanudeep, Singanamalla;Saini, Lokesh:
Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature
Case-Based Review
Deniz, Adnan;Çomu, Sinan;Güngör, Mesut;Anık, Yonca;Kara, Bülent:
Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review
Geiculescu, Irina;Saxonhouse, Matthew A.;Demmer, Laurie;Sutsko, Ronald;Cosper, Graham;Jones, James E.:
Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins
Kaur, Parminder;Chaudhry, Chakshu;Kaur, Anupriya;Panigrahi, Inusha;Srivastava, Priyanka:
Case Studies of Two Classical Imprinting Growth Disorders: Silver–Russell and Beckwith–Wiedemann Syndromes
Gosadi, Ghadah;Busehail, Maryam;Rahbeeni, Zuhair:
Alstrom's Syndrome: An Experience of Tertiary Care Center
Ilhan, Ozkan;Gumus, Evren;Hakan, Nilay;Istar, Hande;Harmandar, Bugra;Olgun, Hasim;Karakus, Suleyman Cuneyt;Cullu, Nesat;Kohlhase, Juergen;Sutherland, James D.;Barrio, Rosa:
A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey
Ipek, Rojan;Bozdogan, Sevcan Tug;Kömür, Mustafa;Okuyaz, Cetin:
A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome
Martin Merlez, Fernanda;González Zalazar, María;Castillo Taucher, Silvia:
Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype
Akella, Radharamadevi:
SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides–Baraitser's Syndrome: Follow-up Study
Gowda, Vykuntaraju K.;Srinivasan, Varunvenkat M.;Reddy, Varsha M.;Vamyanmane, Dhananjaya K.;Shivappa, Sanjay K.;Ramesh, Rohih H.;Vishwanathan, Gurudatta B.:
Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type