Suchergebnisse - "Mitter, Diana"

PubPharm (54)

1

Germline AGO2 mutations impair RNA interference and human neurological development

enthalten in: Nature communications | 2020

von Lessel, D. | Zeitler, D. | Reijnders, M. | +64

2

PEDIA: Prioritization of Exome Data by Image Analysis

enthalten in: bioRxiv.org | 2020

von Hsieh, T. | Mensah, M. | Pantel, J. | +91

3

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

enthalten in: Neurology. Genetics | 2019

von Johannesen, K. | Mitter, D. | Janowski, R. | +35

4

PEDIA : prioritization of exome data by image analysis

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Hsieh, T. | Mensah, M. | Pantel, J. | +91

5

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

enthalten in: Human mutation | 2019

von Ballin, N. | Hotz, A. | Bourrat, E. | +20

6

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

enthalten in: bioRxiv.org | 2019

von Büttner, B. | Martin, S. | Finck, A. | +36

7

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Renner, S. | Schüler, H. | Alawi, M. | +28

8

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

enthalten in: Annals of clinical and translational neurology | 2019

von Pringsheim, M. | Mitter, D. | Schröder, S. | +37

9

PEDIA : prioritization of exome data by image analysis

enthalten in: Genetics in medicine | 2019

von Hsieh, T. | Mensah, M. | Pantel, J. | +91

10

GRIN2A-related disorders : genotype and functional consequence predict phenotype

enthalten in: Brain : a journal of neurology | 2019

von Strehlow, V. | Heyne, H. | Vlaskamp, D. | +67

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