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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
LAST ISSUE
Review Article
Falsaperla, Raffaele; 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
Original Article
Gowda, Vykuntaraju K.; 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
Tamhankar, Parag M.; 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
Brault, Jennifer; 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
Case Report
Rahmani, Nasim; 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
Piccolo, Gianluca; 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
Farra, Chantal; Abdouni, Lina; Hani, Abeer; Dirani, Leyla; Hamdar, Layal; Souaid, Mirna; Awwad, Johnny:
17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum
Fontana, Paolo; 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
Karba, Brendan E.; Lemay, Jean-Francois; McLeod, Scott A.:
The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion
Ramos-Lopes, Joana; 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