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american journal of medical genetics part c: seminars in medical genetics

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Papers13
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Journal Papers 14
Publication Date
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance
delete2026-06-10
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deleteMariz Ebuen; Vasudevan Krishnan; Kathleen Irby; Ryan Monsberger; Rob J. Hopkin; Maggie R. Brand; Nora Friedman; Robyn P. Thom; Allan L. Reiss; Claudia Algaze; Jonathan A. Bernstein; Samantha Alexander; Valerie Cormier-Daire; Angela E. Lin; Suha Bachir
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A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine-Derived Cells
delete2026-05-15
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deleteLauren Kerr; Paul McKay; Juliana Marulanda; Zenghui Wu; Reggie Hamdy; Sena Tavukcu; Noémi Dahan-Oliel; Frank Rauch
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Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4
delete2026-04-13
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deleteKawmadi Gunawardena; Alessandro De Falco; Deborah Osio; Eleanor Sherlock; Emma Kivuva; Erina Sasaki; Francis H. Sansbury; Nayana Lahiri; Patricia Foley; Sahar Mansour; Shane McKee; Tazeen Ashraf; Nicola Brunetti-Pierri; Usha Kini
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Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors
delete2026-03-16
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deleteAhlam Zidan; Sophia C. Pasia; Emmanouil Rampakakis; Reggie Hamdy; Frank Rauch; Lauren C. Hyer; Joel Lerman; Haluk Altiok; Krister Freese; Cary Mielke; Sarah B. Nossov; Philip F. Giampietro; Thania Ordaz-Robles; Noémi Dahan-Oliel
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Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
delete2026-03-16
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deleteAlessandro De Falco; Alfonso Manuel D'Alessio; Nicola Brunetti-Pierri
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Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease
delete2025-11-03
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deleteArmelle Pindon; Nicola Brunetti-Pierri; Kathy H. Young; Mary K. Young; Maria J. Macias; Xiulei Mo
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