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Genes|March 25, 2022
Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman SyndromesRamón Peces, Carlos Peces, Rocío Mena, et al.
Revista Espanola De Cardiologia (English Ed.)|April 30, 2014
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathyAtilano Carcavilla, José L Santomé, Isabel Pinto, et al.
Critical Reviews in Clinical Laboratory Sciences|December 12, 2017
Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratoryJosé Luis García-Giménez, Marta Seco-Cervera, Trygve O Tollefsbol, et al.
Research in Developmental Disabilities|March 20, 2025
Family well-being in families with children and young people with Wolf-Hirschhorn SyndromeCristina Bel-Fenellós, Chantal Biencinto-López, Cristina Orio-Aparicio, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disabilityKaren G Scheps, Liliana Francipane, Julián Nevado, et al.
Frontiers in Neurology|October 18, 2019
Biomarkers in Vestibular Schwannoma-Associated Hearing LossLuis Lassaletta, Miryam Calvino, Jose Manuel Morales-Puebla, et al.
Clinical Genetics|December 1, 2021
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series studyVictor Martinez-Glez, Lara Rodriguez-Laguna, Vanesa Viana-Huete, et al.
Frontiers in Genetics|April 5, 2021
A Possible Association Between Zika Virus Infection and CDK5RAP2 MutationEstephania Candelo, Ana Maria Sanz, Diana Ramirez-Montaño, et al.
Case Reports in Genetics|February 17, 2017
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the LiteratureCarlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, et al.
Clinical Dysmorphology|June 9, 2006
Mietens-Weber syndrome: two new patients and a reviewVíctor Martínez-Glez, Pablo Lapunzina, Alicia Delicado, et al.
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