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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Original Article
Gowda, Vykuntaraju K.;Vignesh, Sukanya;Nagarajan, Balamurugan;Srinivasan, Varunvenkat M.;Battina, Manojna;Bhat, Maya;Christopher, Rita:
Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss
Cakan, Nursen;Yılmaz, Resul;Karaaslan, Erhan;Ateş, Ömer:
Association of Macrophage Migration Inhibitory Factor Gene –173 G/C Polymorphism (rs755622) with Familial Mediterranean Fever in Children
Panda, Prateek Kumar;Sharawat, Indar Kumar;Dawman, Lesa:
GRID2 Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review
Elmas, Muhsin;Yildirim, Umit Can:
Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience
Nevin, Suzanne M.;McLoone, Jordana;Wakefield, Claire E.;Kennedy, Sean E.;McCarthy, Hugh J.:
Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences
Deeb, Asma;Juraibah, Fahad Al;Dubayee, Muhammad Al;Habeb, Abdelhadi:
X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries
Case Report
Menon, Jagadeesh;Shanmugam, Naresh;Srinivas, Sripriya;Vij, Mukul;Jalan, Anil;Srinivas Reddy, Mettu;Rela, Mohamed:
Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis
Vrkić Boban, Ivona;Sekiguchi, Futoshi;Lozić, Mirela;Miyake, Noriko;Matsumoto, Naomichi;Lozić, Bernarda:
A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder
Waldner, Richelle C.;Rojas-Vasquez, Marta;Metcalfe, Peter D.;Haqq, Andrea M.:
Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor
Sandweiss, Alexander J.;Patel, Shalinkumar;Bader, Mohammad Y.;Kylat, Ranjit I.:
A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype
Demir, Damla;Kendir Demirkol, Yasemin;Gerenli, Nelgin;Aktaş Karabay, Ezgi:
Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation
Llorente-La-Orden, Carlos;Burgos-Blasco, Bárbara;Domingo-Gordo, Blanca;Hernández-García, Elena;Gómez-de-Liaño, Rosario:
Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure
Pournami, Femitha;MK, Alok Kumar;Panackal, Anila V.;Nandakumar, Anand;Prabhakar, Jyothi;Jain, Naveen:
Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease
Segovia-Ortí, Raquel;Espinosa de los Monteros Aliaga Cano, Natalia;Lumbreras, Javier;Sotto-Esteban, Diego de;Rodrigo, María Dolores:
Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report
Carman, Kursat Bora;Kaplan, Emre;Aslan, Cefa Nil;Kocagil, Sinem;Cilinigr, Oguz;Yarar, Coskun:
Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features
Menon, Jagadeesh;Vij, Mukul;Shanmugam, Naresh;Hakeem, Abdul;Reddy, Mettu Srinivas;Kaliamoorthy, Ilankumaran;Rela, Mohamed:
Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver
Letter to the Editor
Sookaromdee, Pathum;Wiwanitkit, Viroj:
Ceroid Lipofuscinosis in Children: Correspondence
Gowda, Vykuntaraju K.:
Ceroid Lipofuscinosis in Children: Author's Reply