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Retraso global del desarrollo y microcefalia posnatal: síndrome de Bainbridge-Ropers con una nueva variante de novo en ASXL3
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Comparison of photographs of patients with Bohring–Opitz syndrome (BOS)... | Download Scientific Diagram
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Semantic Scholar
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PDF) Retraso global del desarrollo y microcefalia posnatal: síndrome de Bainbridge-Ropers con una nueva variante de novo en ASXL3
RarasNoInvisibles on Twitter: "1ª Jornada familias con Síndrome Bainbridge- Ropers #ASXL3 En @VHIR_ Área de Genética clínica y molecular. Sábado, 20 de julio, asistencia gratuita, confirmar en: info@aesbr.es https://t.co/g5nWAe4gp7 Org. @CIBERER ...
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Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature | Journal of Medical Genetics
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Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype - Schirwani - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
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