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Publications by Nitschke P

TUBB1 Mutations Cause Thyroid Dysgenesis Associated With Abnormal Platelet Physiology

Yearbook of Paediatric Endocrinology
2019English

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Molecular Defects in Thyroid Dysgenesis

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Mutations in Mitochondrial Histidyl tRNA Synthetase HARS2 Cause Ovarian Dysgenesis and Sensorineural Hearing Loss of Perrault Syndrome

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Combined Alpha-Delta Platelet Storage Pool Deficiency Is Associated With Mutations in GFI1B

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Platelet Physiology and Pathology

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Myo1c Mutations Associated With Hearing Loss Cause Defects in the Interaction With Nucleotide and Actin

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Abnormal Termination of Ca2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

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Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

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