Most Popular Papers*
Effects of Intensive Physical Therapy and Two-Year Follow-Up Results in a Child with Kleefstra Syndrome: A Case Report
Doğan Porsnok and Akmer Mutlu
Unraveling the Etiology of Childhood Hypotonia Using Exome Sequencing
Arya Shambhavi, Amita Moirangthem, Rajesh Kumar Maurya, Varunvenkat M. Srinivasan, Haseena Sait, Somya Srivastava, Renu Suthar, and Shubha R. Phadke
Sleep Disordered Breathing in Children with Achondroplasia: 17 years’ Experience from a Multidisciplinary Team
Maria Jose Guerdile, Virginia Fan, Mariana Del Pino, and Vivian Leske
Diagnosis and Initial Tratment of Gorham-stout’s Disease
Jesús González Cayón, Maria del Carmen San Basilio Berenguer, Julio César Moreno Alfonso, Santiago De la Puente Pérez, Paloma Triana Junco, and Juan Carlos López Gutiérrez
Short-Term Effects of Extremely Low-Frequency Electromagnetic Fields on Neurogenesis and Wnt Signaling in Amniotic Fluid Cells
Coşar Uzun, Ümit Karakaş, Mustafa Ertan Ay, Özlem İzci Ay, Didem Derici Yıldırım, Nurten Erdal, and Mehmet Emin Erdal
Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with Nephronophthisis
Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal, Kenza Soulami, Abdelaziz Sefiani, and Jaber Lyahyai
Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis
Snigdha Verma, Vikrant Sood, Bikrant Bihari Lal, Rajeev Khanna, Chhagan Bihari, and Seema Alam
46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1
Mehmet Ali OKTAY, Agah AKIN, Esra DÖĞER, Gülsüm KAYHAN, Gizem Eşme KOCAMAN, Mahmut Orhun ÇAMURDAN, and Aysun BİDECİ
Ponto-bulbar Palsy, Sensorineural Hearing Loss, Tongue Fasciculation: Molecular Study & Review of Indian Cases
Ankur Singh, Sukanaya Ghosh, Durgadatta Pattanayak, Abhishek Abhinay, and Rajniti Prasad
Novel SUCLG1 Variants in a Patient with Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency
Devlynne S. Ondusko, Lauren Culbertson, Cary O. Harding, Cori Feist, Johan L.K. Van Hove, Marisa W. Friederich, Sacha Ferdinandusse, Roxanne A. Van Hove, Jonathan N. Pruneda, Brian Scottoline, and Kimberly A. Kripps
* Based on the average number of full-text downloads per day since the paper was posted.