Suchergebnisse - "Elbracht, Miriam"

PubPharm (124)

1

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

enthalten in: Genes | 2024

von Bhasin, M. | Knaus, A. | Incardona, P. | +5

2

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

enthalten in: bioRxiv.org | 2024

von Lesmann, H. | Hustinx, A. | Moosa, S. | +80

3

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Lesmann, H. | Hustinx, A. | Moosa, S. | +80

4

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

enthalten in: NPJ genomic medicine | 2024

von Stegmann, J. | Kalanithy, J. | Dworschak, G. | +69

5

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Brunet, T. | Zott, B. | Lieftüchter, V. | +46

6

Role of CAMK2D in neurodevelopment and associated conditions

enthalten in: American journal of human genetics | 2024

von Rigter, P. | de Konink, C. | Dunn, M. | +39

7

Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : Protocol of a prospective multicenter phase 2 trial

enthalten in: HNO | 2024

von Römer, T. | Vokuhl, C. | Staatz, G. | +12

8

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

enthalten in: bioRxiv.org | 2023

von Schmidt, A. | Danyel, M. | Grundmann, K. | +167

9

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

enthalten in: Brain : a journal of neurology | 2023

von Lischka, A. | Eggermann, K. | Record, C. | +79

10

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

enthalten in: Familial cancer | 2023

von Venger, K. | Elbracht, M. | Carlens, J. | +12

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