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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.
Genes|June 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the LiteratureAlejandro Parra, Rachel Rabin, John Pappas, et al.
Therapeutic Advances in Musculoskeletal Disease|March 28, 2022
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studiesRavi Savarirayan, Josep Maria De Bergua, Paul Arundel, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
Loss-of-function of the Zinc Finger Homeobox 4 (<i>ZFHX4</i>) gene underlies a neurodevelopmental disorderPérez Baca María Del Rocío, María Palomares Bralo, Michiel Vanhooydonck, et al.
Pediatric Neurology|April 3, 2024
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature ReviewCarmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, et al.
European Journal of Human Genetics : EJHG|November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patientsJair Tenorio, Pablo Alarcón, Pedro Arias, et al.
Clinical Genetics|July 1, 2021
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular featuresJair Antonio Tenorio-Castaño, Pedro Arias, Alberto Fernández-Jaén, et al.
American Journal of Human Genetics|August 2, 2011
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotypeMaría Palomares, Alicia Delicado, Elena Mansilla, et al.
American Journal of Human Genetics|May 14, 2025
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorderMaría Del Rocío Pérez Baca, María Palomares-Bralo, Michiel Vanhooydonck, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
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