Lingappa, Lokesh;

Naushad, Shaik Mohammad:


Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy

Chawla, Bhavna;

Dada, Rima:


Oxidative Stress and Polymorphism in

MTHFR

SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

Salpietro, Vincenzo;

Bettencourt, Conceicao;

Houlden, Henry:


Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in

KAT6A

Özçay, Figen;

Olcay, Lale;

Ceylaner, Serdar;

Sezer, Taner:


A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Gutierrez, Luz Dary;

Rubio, Cladelis;

Suárez, Alfonso;

Amaya, Angie:


Multiple Hereditary Exostoses: Report of an

EXT2

Gene Mutation in a Colombian Family

Roy, Shuvendu;

Kumar, Gaurav:


An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome

Kaur, Parneet;

Girisha, Katta M.:


Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in

ISCA1

Inbar-Feigenberg, Michal;

Saleh, Maha;

Yaniv-Salem, Shimrit;

Ryan, Greg;

Morgen, Eric;

Goh, Elaine S.;

Nishimura, Gen;

Chitayat, David:


Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)