Suchergebnisse - "Humans"

PubPharm (193)

1

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

enthalten in: Genes | 2024

von Cordova, I. | Blesson, A. | Savatt, J. | +6

2

A high-grade breast mucoepidermoid carcinoma without MAML2 rearrangement : A case report and literature review

enthalten in: Medicine | 2024

von Wang, L. | Cheng, D. | Wang, H. | +2

3

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency : a case report and review of the literature

enthalten in: BMC pediatrics | 2024

von Taghizadeh, N. | Mohammadi, S. | Abolhassani, H. | +4

4

Dedifferentiated Ovarian Carcinoma with ARID1A and ARID1B Mutations : A Clinicopathological Report and Literature Review

enthalten in: International journal of surgical pathology | 2023

von Kamal, M. | Atwi, D. | Pang, H. | +2

5

NR1D1::MAML1 epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy : A case report and review of the literature

enthalten in: Genes, chromosomes & cancer | 2023

von Warmke, L. | Collier, C. | Davis, J.

6

Primary mucoepidermoid carcinoma of the external auditory canal with a CRTC1::MAML2 fusion : A case report and a review of literature

enthalten in: Journal of cutaneous pathology | 2023

von De la Sancha, C. | Kuhar, M. | Kraft, A. | +1

7

Intraosseous Spindle Cell Rhabdomyosarcoma with MEIS1::NCOA2 Fusion - Case Report with Substantial Clinical Follow-up and Review of the Literature

enthalten in: Cancer investigation | 2023

von Smith, B. | Doung, Y. | Beckett, B. | +3

ErratumIn: Cancer Invest. 2023 Sep;41(8):750. - PMID 37733418

8

Epithelioid and spindle cell rhabdomyosarcoma with EWSR1::TFCP2 fusion mimicking metastatic lung cancer : A case report and literature review

enthalten in: Pathology, research and practice | 2023

von Haug, L. | Doll, J. | Appenzeller, S. | +4

9

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies : Case report and review of the literature

enthalten in: American journal of medical genetics. Part A | 2023

von Kose, C. | Kaya, D. | Akcan, M. | +1

10

Revisiting TOP2B-related phenotypes : Three new cases and literature review

enthalten in: Clinical genetics | 2023

von Çepni, E. | Börklü, E. | Avcı, �. | +3

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