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

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

Hergüner, Özlem;

Tunç, Erdal:


A Cytogenetic Study of Turkish Children with Global Developmental Delay

Schmidt, Esther;

Schmidt, Heinrich;

Dubinski, Ilja:


Abnormalities of the Eyelashes in Turner’s Syndrome

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

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

Saxonhouse, Matthew A.;

Demmer, Laurie;

Sutsko, Ronald;

Cosper, Graham;

Jones, James E.:


Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins

Chaudhry, Chakshu;

Kaur, Anupriya;

Panigrahi, Inusha;

Srivastava, Priyanka:


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

Busehail, Maryam;

Rahbeeni, Zuhair:


Alstrom’s Syndrome: An Experience of Tertiary Care Center

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

Bozdogan, Sevcan Tug;

Kömür, Mustafa;

Okuyaz, Cetin:


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

González Zalazar, María;

Castillo Taucher, Silvia:


Frameshift Variant in

ARID2

in a Chilean Individual with Coffin–Siris Syndrome Phenotype

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