Suchergebnisse - "Kurth, Ingo"

PubPharm (245)

1

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

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

von Asif, M. | Khayyat, A. | Alawbathani, S. | +20

2

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

3

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

4

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

enthalten in: Genome medicine | 2023

von Lin, S. | Vona, B. | Lau, T. | +34

5

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

enthalten in: Genome medicine | 2023

von Lin, S. | Vona, B. | Lau, T. | +34

6

Single-cell, whole-embryo phenotyping of mammalian developmental disorders

enthalten in: Nature | 2023

von Huang, X. | Henck, J. | Qiu, C. | +38

7

Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels

enthalten in: Pflugers Archiv : European journal of physiology | 2023

von Loose, S. | Lischka, A. | Kuehs, S. | +4

8

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

enthalten in: Familial cancer | 2023

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

9

Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell epitope mapping

enthalten in: bioRxiv.org | 2023

von Schreibing, F. | Hannani, M. | Ticconi, F. | +22

10

Peripheral temperature dysregulation associated with functionally altered $ Na_{V} $1.8 channels

enthalten in: Pflügers Archiv | 2023

von Loose, S. | Lischka, A. | Kuehs, S. | +4

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