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Publications by authors named "Sara S Halbach"

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Sara S Halbach

Genet Med· April 2025


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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Francis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, Manfred Boehm, Emmanuelle Bourrat, Sara S Halbach

Genet Med· September 2021


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A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Chad R Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, Melissa Ciano, Sara S Halbach

Eur J Med Genet· November 2009


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