Suchergebnisse - "Eggermann, Thomas"

PubPharm (488)

21

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome

enthalten in: Expert review of endocrinology & metabolism | 2022

von Eggermann, T. | Prawitt, D.

22

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

23

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

24

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

25

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

enthalten in: Clinical epigenetics | 2022

von Mackay, D. | Bliek, J. | Kagami, M. | +26

26

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances : current status and perspectives

enthalten in: Endocrine connections | 2022

von van der Kaay, D. | Rochtus, A. | Binder, G. | +7

27

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype

enthalten in: bioRxiv.org | 2022

von Rübben, A. | Wahl, R. | Eggermann, T. | +3

28

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

enthalten in: American journal of human genetics | 2022

von Vitobello, A. | Mazel, B. | Lelianova, V. | +37

29

Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice

enthalten in: Cancers | 2022

von Eggermann, T. | Maher, E. | Kratz, C. | +1

30

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

enthalten in: Molecular cytogenetics | 2022

von Baba, N. | Lengyel, A. | Pinti, E. | +5