Suchergebnisse - "Kurth, Ingo"

PubPharm (251)

81

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

enthalten in: Journal of molecular medicine | 2020

von Eggermann, T. | Brück, J. | Knopp, C. | +7

82

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

enthalten in: Journal of molecular medicine | 2020

von Eggermann, T. | Brück, J. | Knopp, C. | +7

83

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

enthalten in: Brain : a journal of neurology | 2020

von Schneeberger, P. | Kortüm, F. | Korenke, G. | +143

84

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

enthalten in: Brain : a journal of neurology | 2020

von Hedberg-Oldfors, C. | Meyer, R. | Nolte, K. | +21

ErratumIn: Brain. 2021 Apr 12;144(3):e34. - PMID 33313686

85

Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

enthalten in: Orphanet journal of rare diseases | 2020

von Eggermann, T. | Elbracht, M. | Kurth, I. | +110

86

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

enthalten in: Orphanet journal of rare diseases | 2020

von Eggermann, T. | Elbracht, M. | Kurth, I. | +10

87

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

enthalten in: Orphanet journal of rare diseases | 2020

von Eggermann, T. | Elbracht, M. | Kurth, I. | +10

88

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability

enthalten in: European journal of medical genetics | 2020

von Häusler, M. | Begemann, M. | Lidov, H. | +3

89

Paroxysmal tonic upgaze : A heterogeneous clinical condition responsive to carbonic anhydrase inhibition

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2020

von Quade, A. | Thiel, A. | Kurth, I. | +6

90

Sensory neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering

enthalten in: bioRxiv.org | 2020

von Krols, M. | Detry, S. | Asselbergh, B. | +11