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American Journal of Medical Genetics. Part A|January 19, 2010
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 geneA Orrico, L Galli, L Faivre, et al.
Epilepsia|June 25, 2026
Beyond congenital anomalies, the impact of sodium valproate exposure in utero on long-term health and well-being: A contribution from the ConcePTION projectP A Wells, J L Richardson, D Astill, et al.
Birth Defects Research|September 17, 2025
A Scoping Review of Human Teratogens and Their Impact on the Developing Brain: A Contribution From the ConcePTION ProjectM Bluett-Duncan, J Adams, M Berkovitch, et al.
Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.
Neurotoxicology and Teratology|September 4, 2023
Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION projectM Bluett-Duncan, D Astill, R Charbak, et al.
Clinical Genetics|February 6, 2004
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner, K M Lower, S M White, et al.
Clinical Genetics|March 4, 2016
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndromeB Schönewolf-Greulich, M-I Tejada, K Stephens, et al.
American Journal of Human Genetics|April 1, 2008
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormalityJ A Fantes, E Boland, J Ramsay, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm studyM Luu, P Vabres, H Devilliers, et al.
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