Thomas Eggermann
0000-0002-8419-0264
8 papers found
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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
Interrupted reprogramming into induced pluripotent stem cells does not rejuvenate human mesenchymal stromal cells
Molecular and clinical studies in 8 patients with Temple syndrome
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself: Maternal uniparental disomy of chromosome 16 [upd(16)mat]
First report on concordant monozygotic twins with Silver–Russell syndrome and ICR1 hypomethylation
Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management
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