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BMJ Case Reports|March 28, 2025
Diagnostic challenges in DAT-negative autoimmune haemolytic anaemiaLaura McDuff, Marcus Lombard, Tony Calogero, et al.
Journal of Medical Genetics|July 1, 2018
Genetics of neuromuscular fetal akinesia in the genomics eraSarah Jane Beecroft, Marcus Lombard, David Mowat, et al.
Plos Genetics|December 14, 2018
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequenceEdith Bonnin, Pauline Cabochette, Alessandro Filosa, et al.
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