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Journal of Clinical Medicine|July 9, 2022
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature ReviewMiriam Potrony, Antoni Borrell, Narcís Masoller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2011
Novel MLH1 duplication identified in Colombian families with Lynch syndromeVirginia Alonso-Espinaco, María Dolores Giráldez, Carlos Trujillo, et al.
Neuropathology and Applied Neurobiology|June 9, 2025
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological InsightsIrene Madrigal, Cristina Villar-Vera, Gemma Arca, et al.
Genes, Chromosomes & Cancer|November 14, 2006
Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressorMiguel Angel Pujana, Anna Ruiz, Cèlia Badenas, et al.
Disease Models & Mechanisms|February 11, 2017
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexesSabiha Abekhoukh, H Bahar Sahin, Mauro Grossi, et al.
Acta Neuropathologica Communications|February 21, 2025
Human induced pluripotent stem cell-derived myotubes to model inclusion body myositisJudith Cantó-Santos, Laura Valls-Roca, Ester Tobías, et al.
Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.
Nature Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.
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