Ruggieri, Martino;

Falsaperla, Raffaele;

Savasta, Salvatore;

Raucci, Umberto;

Pavone, Piero:


A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of

MARCH1

Vegda, Hemadri;

Sugumar, Kiruthiga;

Narayanappa, Gayathri;

Srinivasan, Varunvenkat M.;

Santhoshkumar, Rashmi;

Bhat, Maya;

Balu, Sam;

Naveen, Mohan Rao:


Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India

Kumar, Atin;

Gupta, Arun;

Bhari, Neetu;

Sethuraman, Gomathy;

Kaushal, Tanuja;

Pradhan, Ankita;

Sapra, Savita;

Gupta, Neerja;

Kaur, Punit;

Gulati, Sheffali;

Chakrawarty, Biswaroop;

Danda, Sumita;

Bhatt, Meenakshi;

Kapoor, Seema;

Girisha, Katta M.;

Sankhyan, Naveen;

Kabra, Madhulika;

Chowdhury, Madhumita Roy:


Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population

Khonsari, Nami Mohammadian;

Savad, Shahram;

Hakak-Zargar, Benyamin;

Voth, Tessa;

Kabir, Koroush:


Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

Cesario, Claudia;

Goldoni, Marina;

Pasquariello, Rosa;

Fusilli, Caterina;

Giovannetti, Agnese;

Giglio, Sabrina;

Novelli, Antonio;

Caputo, Viviana;

Cioni, Giovanni;

Mazza, Tommaso;

Battaglia, Agatino;

Bernardini, Laura;

Battini, Roberta:


Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

Muranjan, Mamta:


Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

Lukas, Jospaul;

Unnikrishnan, Gopikrishnan;

Thomas, Bejoy;

Kesavadas, Chandrasekharan:


Treatable Hereditary Manganese Transport Disorder: Novel

SLC30A10

Mutation and its Characteristic Neuroimaging Appearance in Two Siblings

Evans, Martin J.;

Byrd, Philip J.;

Taylor, Malcolm R.:


Biallelic Mutation of

SETX

and Additional Likely “In Cis”

SETX

Sequence Change in Ataxia with Oculomotor Apraxia Type 2

Dogan, Melih Timucin;

Keceli, Avni Merter:


PHACE Syndrome in a Child with Structural Malformations of the Brain

Welter, Amanda Thum;

Abech, Gabriel Dotta;

Almeida, Carla Bastos da Costa;

Okabayashi, Caio Seiti Mestre;

Gadelha, Kerolainy Alves;

Zen, Paulo Ricardo Gazzola;

Rosa, Rafael Fabiano Machado:


Trisomy 21 and Ebstein Anomaly: Diagnosis and Prognosis of a Rare Association

Montes-Zapico, Bárbara;

Rodríguez-Dehli, Ana-Cristina;

García-Hoyos, María;

Arroyo-Hernández, Mireia:


Novel

UGT1A1

Gene Mutations in a Boy with Crigler–Najjar Syndrome Type II

Kumar, Vivek;

Ramamurthy, H. Ravi:


Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report

Arora, Veronica;

Tiwari, Vaibhav;

Gupta, Deepti;

Gupta, Anurag;

Puri, Ratna Dua:


Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation