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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.
Nature Cancer|April 22, 2021
Fatty acid metabolism underlies venetoclax resistance in acute myeloid leukemia stem cellsBrett M Stevens, Courtney L Jones, Daniel A Pollyea, 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.
Epilepsia|May 22, 2024
The use of parent-completed questionnaires to investigate developmental outcomes in large populations of children exposed to antiseizure medications in pregnancyMatthew Bluett-Duncan, Philip Bullen, Ellen Campbell, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, 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.
Human Genetics|January 26, 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosisPauline Arnaud, Caroline Racine, Nadine Hanna, et al.
Cardiovascular Drugs and Therapy|January 13, 2022
A Multisite Retrospective Review of Direct Oral Anticoagulants Compared to Warfarin in Adult Fontan PatientsAmir Kazerouninia, Justin Georgekutty, Payton Kendsersky, et al.
Nature Medicine|November 14, 2018
Venetoclax with azacitidine disrupts energy metabolism and targets leukemia stem cells in patients with acute myeloid leukemiaDaniel A Pollyea, Brett M Stevens, Courtney L Jones, et al.
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