DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 13 · June 2024 DOI: 10.1055/s-014-59600

Original Article

  • 081
    Srivastava, Priyanka; Kaur, Parminder; Daniel, Roshan; Chaudhry, Chakshu; Kaur, Anit; Seth, Saurabh; Kumari, Divya; Kaur, Anupriya; Panigrahi, Inusha:

    Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay

  • 090
    de Carvalho, Acacia Fernandes Lacerda; Alves, Esmeralda Santos; Pitanga, Paula Monique Leite; Ribeiro, Erlane Marques; Doriqui, Maria Juliana Rodovalho; Toralles, Maria Betânia Pereira; Topázio, Bianca Arcaro; dos Santos, Jéssica Fernandes; de Lima, Renata Lúcia Leite Ferreira; Kulikowski, Leslie Domenici; Acosta, Angelina Xavier:

    Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil

  • 099
    Demirhan, Osman; Hergüner, Özlem; Tunç, Erdal:

    A Cytogenetic Study of Turkish Children with Global Developmental Delay

  • 106
    Almarzooqi, Layla; Schmidt, Esther; Schmidt, Heinrich; Dubinski, Ilja:

    Abnormalities of the Eyelashes in Turner's Syndrome

  • 110
    Chhajed, Monika; Gunasekaran, Pradeep Kumar; Bhanudeep, Singanamalla; Saini, Lokesh:

    Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature

    • Case-Based Review

  • 116
    Deniz, Adnan; Çomu, Sinan; Güngör, Mesut; Anık, Yonca; Kara, Bülent:

    Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review

  • 123
    Geiculescu, Irina; Saxonhouse, Matthew A.; Demmer, Laurie; Sutsko, Ronald; Cosper, Graham; Jones, James E.:

    Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins

  • 127
    Kaur, Parminder; Chaudhry, Chakshu; Kaur, Anupriya; Panigrahi, Inusha; Srivastava, Priyanka:

    Case Studies of Two Classical Imprinting Growth Disorders: Silver–Russell and Beckwith–Wiedemann Syndromes

    Supplementary Material (PDF)
  • 133
    Gosadi, Ghadah; Busehail, Maryam; Rahbeeni, Zuhair:

    Alstrom's Syndrome: An Experience of Tertiary Care Center

  • 139
    Ilhan, Ozkan; Gumus, Evren; Hakan, Nilay; Istar, Hande; Harmandar, Bugra; Olgun, Hasim; Karakus, Suleyman Cuneyt; Cullu, Nesat; Kohlhase, Juergen; Sutherland, James D.; Barrio, Rosa:

    A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey

  • 144
    Ipek, Rojan; Bozdogan, Sevcan Tug; Kömür, Mustafa; Okuyaz, Cetin:

    A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome

  • 149
    Martin Merlez, Fernanda; González Zalazar, María; Castillo Taucher, Silvia:

    Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype

    Supplementary Material (PDF)
  • 154
    Akella, Radharamadevi:

    SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides–Baraitser's Syndrome: Follow-up Study

  • 158
    Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Reddy, Varsha M.; Vamyanmane, Dhananjaya K.; Shivappa, Sanjay K.; Ramesh, Rohih H.; Vishwanathan, Gurudatta B.:

    Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type