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

Yılmaz, Resul;

Karaaslan, Erhan;

Ateş, Ömer:


Association of Macrophage Migration Inhibitory Factor Gene –173 G/C Polymorphism (rs755622) with Familial Mediterranean Fever in Children

Sharawat, Indar Kumar;

Dawman, Lesa:



GRID2

Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review

Yildirim, Umit Can:


Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience

McLoone, Jordana;

Wakefield, Claire E.;

Kennedy, Sean E.;

McCarthy, Hugh J.:


Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families’ Experiences

Juraibah, Fahad Al;

Dubayee, Muhammad Al;

Habeb, Abdelhadi:


X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries

Shanmugam, Naresh;

Srinivas, Sripriya;

Vij, Mukul;

Jalan, Anil;

Srinivas Reddy, Mettu;

Rela, Mohamed:


Wolman’s Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

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

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

Patel, Shalinkumar;

Bader, Mohammad Y.;

Kylat, Ranjit I.:


A Truncating Variant of

CHRNG

as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype

Kendir Demirkol, Yasemin;

Gerenli, Nelgin;

Aktaş Karabay, Ezgi:


Johanson–Blizzard’s Syndrome with a Novel

UBR1

Mutation

Burgos-Blasco, Bárbara;

Domingo-Gordo, Blanca;

Hernández-García, Elena;

Gómez-de-Liaño, Rosario:


Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure

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

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

Kaplan, Emre;

Aslan, Cefa Nil;

Kocagil, Sinem;

Cilinigr, Oguz;

Yarar, Coskun:


Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features

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

Wiwanitkit, Viroj:


Ceroid Lipofuscinosis in Children: Correspondence