Suchergebnisse - "Zechner, Ulrich"

PubPharm (148)

1

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

enthalten in: bioRxiv.org | 2024

von Nuzhat, N. | Van Schil, K. | Liakopoulos, S. | +30

2

Correction : Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins

enthalten in: Zentralblatt fur Chirurgie | 2024

von Wilmanns, C. | Zechner, U. | Walter, P. | +1

ErratumFor: Zentralbl Chir. 2024 Mar 20;:. - PMID 38508221

3

Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins

enthalten in: Zentralblatt fur Chirurgie | 2024

von Wilmanns, C. | Zechner, U. | Walter, P. | +1

ErratumIn: Zentralbl Chir. 2024 Apr 08;:. - PMID 38588702

4

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

enthalten in: JCI insight | 2023

von Abdel-Salam, G. | Hellmuth, S. | Gradhand, E. | +31

5

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

enthalten in: The Journal of clinical investigation | 2023

von Nuzhat, N. | Van Schil, K. | Liakopoulos, S. | +30

6

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

enthalten in: Cold Spring Harbor molecular case studies | 2022

von Elgaz, S. | Wittekindt, B. | Esmaeili, A. | +4

7

OTUD6B-associated intellectual disability : novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

enthalten in: Journal of human genetics | 2022

von Abdel-Salam, G. | Abdel-Hamid, M. | Sayed, I. | +2

8

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

enthalten in: Human molecular genetics | 2021

von Zhang, Y. | Tachtsidis, G. | Schob, C. | +20

9

Lipid presentation by the protein C receptor links coagulation with autoimmunity

enthalten in: Science (New York, N.Y.) | 2021

von Müller-Calleja, N. | Hollerbach, A. | Royce, J. | +21

CommentIn: Science. 2021 Mar 12;371(6534):1100-1101. - PMID 33707252

10

CpG islands in MyD88 and ASC/PYCARD/TMS1 promoter regions are differentially methylated in head and neck squamous cell carcinoma and primary lung squamous cell carcinoma

enthalten in: Diagnostic pathology | 2021

von Šutić, M. | Baranašić, J. | Bilić, L. | +8

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