Giacchi, Valentina;

Aguglia, Maria Giovanna;

Mailo, Janette;

Longo, Maria Grazia;

Natacci, Federica;

Ruggieri, Martino:


Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

Sivasubramanian, Ramya;

Srivastava, Gitanjali:


Evaluation and Management of Early Onset Genetic Obesity in Childhood

Srinivasan, Varunvenkat M.;

Nagarajan, Balamurugan;

Bhat, Maya;

Shivappa, Sanjay K.;

Benakappa, Naveen:


Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India

Vasudevan, Lakshmi;

Kondurkar, Pratima;

Niazi, Sarfaraj;

Christopher, Rita;

Solanki, Dhaval;

Dholakia, Pooja;

Muranjan, Mamta;

Kamate, Mahesh;

Kalane, Umesh;

Sheth, Jayesh;

Tamhankar, Vasundhara;

Gulati, Reena;

Vasikarla, Madhavi;

Danda, Sumita;

Naushad, Shaik M.;

Girisha, Katta M.;

Patil, Shekhar:


Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1

Walsh, Laurence;

Vance, Gail H.;

Weaver, David D.:


Klinefelter’s Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

Talebi, Saeed;

Hooman, Nakysa;

Karamzade, Arezou:


Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in

CLDN19

Amadori, Elisabetta;

Vari, Maria Stella;

Marchese, Francesca;

Riva, Antonella;

Ghirotto, Valentina;

Iacomino, Michele;

Salpietro, Vincenzo;

Zara, Federico;

Striano, Pasquale:


Complex Neurological Phenotype Associated with a De Novo

DHDDS

Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder

Abdouni, Lina;

Hani, Abeer;

Dirani, Leyla;

Hamdar, Layal;

Souaid, Mirna;

Awwad, Johnny:


17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum

Bernardini, Laura;

Lombardi, Cinzia;

Giuffrida, Maria Grazia;

Ciavarella, Maria;

Capalbo, Anna;

Maioli, Marianna;

Scarano, Francesca;

Cantalupo, Giuseppina;

Falco, Mariateresa;

Scarano, Gioacchino;

Lonardo, Fortunato:


De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

Lemay, Jean-Francois;

McLeod, Scott A.:


The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

Ribeiro, Joana;

Laço, Mário;

Alves, Cristina;

Matos, Anabela;

Costa, Cármen:


A De Novo

BSCL2

Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement