DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

The 10 most popular articles of the last 3 months.

1
Thomas, Elizabeth; Lewis, Andrea M.; Yang, Yaping; Chanprasert, Sirisak; Potocki, Lorraine; Scott, Daryl A.: Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability
2
Leone, Paola E.; Pérez-Villa, Andy; Yumiceba, Verónica; Hernández, María Ángeles; García-Cárdenas, Jennyfer M.; Armendáriz-Castillo, Isaac; Guerrero, Santiago; Guevara-Ramírez, Patricia; López-Cortés, Andrés; Zambrano, Ana Karina; García, Juan Luis; Hernández, Jesús María; Paz-y-Miño, César: De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation
3
Nielsen, Cory; Ratiu, Ileana; Esfandiarei, Mitra; Chen, Angela; Selamet Tierney, Elif Seda: A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers
4
Waller, Alexia; Findeis, Sarah; Lee, Michael J.: Familial Adenomatous Polyposis
5
Alfurayh, Nuha; Alsaif, Fahad; Alballa, Nouf; Zeitouni, Leena; Ramzan, Khushnooda; Imtiaz, Faiqa; Alakeel, Abdullah: LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes
6
Kendir, Ozlem Tolu; Yilmaz, Hayri Levent; Bozdogan, Sevcan; Bisgin, Atıl; Celik, Tugçe; Surmelioglu, Ozgur; Doran, Figen: A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping
7
del Pino, Mariana; Aza-Carmona, Miriam; Medino-Martín, David; Gomez, Abel; Heath, Karen E.; Fano, Virginia; Obregon, María Gabriela: SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation
9
El-Bassyouni, Hala T.; Hassan, Nagwa; Mahfouz, Inas; Abd-Elnaby, Azza E.; Mostafa, Mostafa I.; Tosson, Angie M.S.: Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients
10
Mansour, Hicham; Sabbagh, Sandra; Bizzari, Sami; El-Hayek, Stephany; Chouery, Eliane; Gambarini, Alicia; Gencik, Martin; Mégarbané, André: The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency