DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 03 · Volume 10 · September 2021 DOI: 10.1055/s-011-51815

Review Article

  • 173
    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

  • 194
    Malhotra, Sonali; Sivasubramanian, Ramya; Srivastava, Gitanjali:

    Evaluation and Management of Early Onset Genetic Obesity in Childhood

    • Original Article

  • 205
    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

  • 213
    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

    Supplementary Material (PDF) Supplementary Material (PDF)
  • 222
    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

  • 230
    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

  • 236
    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

    Video vorhanden
  • 239
    Farra, Chantal; Abdouni, Lina; Hani, Abeer; Dirani, Leyla; Hamdar, Layal; Souaid, Mirna; Awwad, Johnny:

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

    Supplementary Material (PDF)
  • 245
    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

  • 250
    Karba, Brendan E.; Lemay, Jean-Francois; McLeod, Scott A.:

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

  • 253
    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