Showing 1 - 5 results of 5 for search 'Amelle Shillington', query time: 0.01s
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The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature by Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W. Owens, Wenying Zhang, Robert J. Hopkin, Amelle Shillington
Published 2025-05-01Get full text
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P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study by Kristin Theobald, Farrah Jackson, Jaime Lopes, Amelle Shillington, Hassan Chaib, Brian Dawson, Laurelle Kinga-Bakienga, Michael Pauciulo, Anne Slavotinek
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P189: Endocrinopathies in TAOK1-related neurodevelopmental disorders: An expanded case series on the evolution of symptoms in adolescents and young adults by Samuel Carter, Matthias Tedros, Joshua Owens, Ethan Sperry, Ghada Hijazi, Elizabeth Seiwert, Wenying Zhang, Robert Hopkin, Amelle Shillington, Yaning Wu, Matthias Tedros
Published 2025-01-01Get full text
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O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations by Muhammed Cagri Bayraktutan, Abigail Sveden, Raymond Belanger, Ellen Hanson, Jack Murray, Edward Yang, Jada Cameron, Elizabeth Buttermore, Dustin Gable, Kellen Winden, Celia Tam, Vikram Prakash, Laura Trujillano, Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger, Britton Zuccarelli, Linda Rosetti, Kendra Engleman, Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett, Marco Tartaglia, Seema Lalani, Wen-Hann Tan, Jeanne Amiel, Christopher Gordon, Mustafa Sahin, Maya Chopra
Published 2025-01-01Get full text
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