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Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics Research funded by Wellcome (102731) | NIHR UK Rare Genetic Disease Research Consortium, the MRC through the WIMM Strategic Alliance (G0902418 and MC UU 12025) | AFM (17406) | NIH/NIDCR (5R01DE018227) | FAPESP/CEPID (2013/08028-1 and 303712/2016-3) |
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals JOURNAL ARTICLE published 30 January 2024 in Journal of Medical Genetics Research funded by Dutch Research Council (015.014.036,1160.18.320) | Netherlands Organisation for Health Research and Development (10250022110003,91718310) | National Health and Medical Research Council (1105008,1195955,2015727,2022156) | Australian Research Council (220100253) | National Institutes of Health/National Institutes of Neurological Disorders and Stroke (K23NS119666) |
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study JOURNAL ARTICLE published June 2022 in Journal of Medical Genetics |
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers JOURNAL ARTICLE published April 2022 in Journal of Medical Genetics Research funded by Research Trainees Coordinating Centre (NIHR-CS-012-009) | National Institute for Health Research (IS-BRC-1215-20007,NF-SI-0513-10076) | Medical Research Council (MR/M018431/1) |
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing JOURNAL ARTICLE published 1 September 2011 in Journal of Medical Genetics |
Comprehensive genomic analyses associateUGT8variants with musical ability in a Mongolian population JOURNAL ARTICLE published December 2012 in Journal of Medical Genetics |
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct JOURNAL ARTICLE published 6 July 2023 in Journal of Medical Genetics |
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders JOURNAL ARTICLE published July 2022 in Journal of Medical Genetics |
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy JOURNAL ARTICLE published November 2021 in Journal of Medical Genetics Research funded by Ministero dell'Istruzione, dell'Università e della Ricerca (PRIN 2015 JHLY35) | Università degli Studi della Campania Luigi Vanvitelli (Programma VALERE project MIRIAM) | Regione Campania (Progetti per la ricerca oncologica della Regione C) | Associazione Italiana per la Ricerca sul Cancro (IG18671) | Fondazione Telethon (GGP15131) |
Comprehensive somatic genome alterations of urachal carcinoma JOURNAL ARTICLE published August 2017 in Journal of Medical Genetics |
Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis JOURNAL ARTICLE published 1 February 2024 in Journal of Medical Genetics Research funded by USAMRAA CDMRP Neurofibromatosis Research Program (W81XWH1910334) | Manchester National Institute for Health Research (NIHR) Biomedical Research Centre (IS- BRC-1215-20007) |
MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics |
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR JOURNAL ARTICLE published December 2022 in Journal of Medical Genetics Research funded by National Center for Child Health and Development (2019B-4) | Japan Agency for Medical Research and Development (20ek0109373h0003) |
Editorial: JMG in 2021 JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics |
MG-142 Improved motor function with 5-hydroxytryptophan in a family with systemic serotonin deficiency, hemiplegic migraines and neurodegenerative course JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics |
Further characterisation ofARX-related disorders in females due to inherited or de novo variants JOURNAL ARTICLE published February 2024 in Journal of Medical Genetics |
A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium JOURNAL ARTICLE published May 2017 in Journal of Medical Genetics |
15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics |
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2 JOURNAL ARTICLE published 1 July 2009 in Journal of Medical Genetics |
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia JOURNAL ARTICLE published November 2023 in Journal of Medical Genetics Research funded by Nederlandse Organisatie voor Wetenschappelijk Onderzoek ((NWO, 724.016.003).) |