Roni, Gabriel Marim;

Torrelio, Rosalie Matuk Fuentes;

da Gama-de-Souza, Letícia Nogueira:


Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review

Deconte, Desirée;

Gadelha, Kerolainy Alves;

Glaeser, Andressa Barreto;

Guaraná, Bruna Baierle;

de Moura, Andreza Ávila;

Rosa, Rafael Fabiano Machado;

Zen, Paulo Ricardo Gazzola:


Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

Kaur, Harvinder;

Kaur, Rupinder;

Panigrahi, Inusha;

Walia, Brij Nandan Singh:


Growth Pattern and Use of Inter-pupillary Distance in the Detection of Ocular Hypertelorism and Hypotelorism in Indian Down Syndrome Children

Pattnaik, Smaranika:


The

HBG2

rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia

Wei, Heming;

Lai, Angeline H. M.;

Tan, Ee-Shien;

Lim, Jiin Ying;

Cham, Breana;

Ling, Simon;

Jamuar, Saumya S.;

Tan, Ene-Choo:


Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

Faruq, Mohammed;

Gupta, Ashok;

Shrivastava, Divya;

Shamim, Uzma:


6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

Speck-Martins, Carlos E.;

Martins, Bernardo J. A. F.;

Izumi, Ana Paula;

La Rocque-Ferreira, Alessandra:


Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

Gupta, Shikha;

Mahalingam, Karthikeyan;

Azmira, Kishan;

Gupta, Viney:


Digenic Inheritance in Juvenile Open-Angle Glaucoma

Melo, C.;

Ferreira, C.;

Sampaio, M.;

Sousa, R.;

Leão, M.:


RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

Gonzalez Montes, Noelia;

Gonzalo Alonso, Isabel;

Martinez, Francisco;

Aparisi, Maria Jose;

Martinez-Matilla, Marina;

Marco Hernandez, Ana Victoria;

Tomás Vila, Miguel:


Variant in

CACNA1G

as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo

SCN2A

Mutation

Patil, Mallikarjun:


Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

Čulić, Vida;

Swinderek-Alsayed, Zofia:


Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

Dentel, John N.;

Sanil, Yamuna;

Lawrence, David:


Cardiac Fibroma with Asymptomatic Ventricular Arrhythmia in an Adolescent with Gorlin’s Syndrome

Paria, Pradip;

Suthar, Renu;

Saini, Arushi G.;

Attri, Savita V.:


The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Scottoline, Brian;

Jordan, Brian K.:


Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity