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Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
American Journal of Medical Genetics. Part A|May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayDavid A Stevenson, Lisa Schill, Lisa Schoyer, et al.
Clinical Genetics|September 8, 2017
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetranceZ Powis, K D Farwell Hagman, C Mroske, et al.
American Journal of Human Genetics|March 1, 1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeM Muenke, K W Gripp, D M McDonald-McGinn, et al.
Cell|March 20, 2018
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human HematopoiesisRajiv K Khajuria, Mathias Munschauer, Jacob C Ulirsch, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
Microbiology Spectrum|October 9, 2023
The impact of early anti-SARS-CoV-2 antibody production on the length of hospitalization stay among COVID-19 patientsDalziza Victalina de Almeida, Priscila Alves Cezar, Thais Freitas Barreto Fernandes, et al.
Plos One|April 29, 2025
High level of soluble tumor necrosis factor receptors is associated with lower residual diuresis volume in patients on hemodialysis: An exploratory studyGabriele Teixeira Gonçalves, Luciana Martins de Mello Santos, Pedro Henrique Scheidt Figueiredo, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 28, 2024
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathiesMelissa R Perrino, Anirban Das, Sarah R Scollon, et al.
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