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American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.Eclinicalmedicine|October 27, 2025
Omacetaxine and azacitidine for untreated patients with myelodysplastic syndromes and excess blasts: a phase I/II clinical trialDaniel A Pollyea, Brett M Stevens, Diana Abbott, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disordersEva Lenassi, Jill Clayton-Smith, Sofia Douzgou, et al.American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.European Journal of Human Genetics : EJHG|June 21, 2012
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speechJulien Thevenon, Patrick Callier, Joris Andrieux, et al.Biorxiv : the Preprint Server for Biology|June 9, 2020
A Cryptic Site of Vulnerability on the Receptor Binding Domain of the SARS-CoV-2 Spike GlycoproteinM Gordon Joyce, Rajeshwer S Sankhala, Wei-Hung Chen, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 18, 2007
Partially matched, nonmyeloablative allogeneic transplantation: clinical outcomes and immune reconstitutionDavid A Rizzieri, Liang Piu Koh, Gwynn D Long, et al.Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.Blood Advances|October 25, 2019
Real-world experience of venetoclax with azacitidine for untreated patients with acute myeloid leukemiaAmanda C Winters, Jonathan A Gutman, Enkhtsetseg Purev, et al.American Journal of Human Genetics|December 29, 2005
Discriminating power of localized three-dimensional facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.Pageof 36