Suchergebnisse - "Boschann, Felix"

PubPharm (45)

1

RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant

enthalten in: American journal of medical genetics. Part A | 2024

von Schwartzmann, S. | Zhao, M. | Sczakiel, H. | +5

2

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

enthalten in: ResearchSquare.com | 2024

von Koparir, A. | Lekszas, C. | Keseroglu, K. | +14

3

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

enthalten in: Human genomics | 2024

von Koparir, A. | Lekszas, C. | Keseroglu, K. | +14

4

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

enthalten in: Human genomics | 2024

von Koparir, A. | Lekszas, C. | Keseroglu, K. | +14

5

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

6

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

7

Broadening the phenotypic and molecular spectrum of FINCA syndrome : Biallelic NHLRC2 variants in 15 novel individuals

enthalten in: European journal of human genetics : EJHG | 2023

von Sczakiel, H. | Zhao, M. | Wollert-Wulf, B. | +30

8

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Caron, V. | Chassaing, N. | Ragge, N. | +52

9

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Boschann, F. | Cogulu, O. | Pehlivan, D. | +21

ErratumFor: Genet Med. 2022 Oct;24(10):2187-2193. - PMID 35962790

10

Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleep

enthalten in: Epilepsia | 2023

von Becker, L. | Horn, D. | Boschann, F. | +5

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