Patrick Verloo
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Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
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Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
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Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication
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Successful autologous stem cell transplantation in a girl with neuropsychiatric systemic lupus erythematosus
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Hypocretin-1 deficiency in a girl with ROHHAD syndrome
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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
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Hashimoto encephalopathy and antibodies against dimethylargininase-1: a rare cause of cognitive decline in a pediatric Down's syndrome patient
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Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster
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Treatment of scot deficiency with modified corn starch (Glycosade)
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Abnormal congenital disorders of glycosylation screening test leading to the diagnosis of Tay Sachs