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Andreas Ritter2019-06-17 12:28:432019-06-24 08:47:01X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
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Andreas Ritter2019-06-17 11:06:162019-06-21 10:20:50Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
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Andreas Ritter2019-06-17 10:09:492019-06-24 08:46:31De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
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Andreas Ritter2019-06-17 09:20:192019-06-17 11:15:20FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
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Andreas Ritter2019-06-17 08:54:232019-06-17 09:00:36Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.
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