Suchergebnisse - "Helaers, Raphaël"

PubPharm (54)

1

A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms

enthalten in: Diabetes & metabolism journal | 2024

von Welsch, S. | Harvengt, A. | Gallo, P. | +9

2

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)

enthalten in: The Journal of investigative dermatology | 2024

von De Bortoli, M. | Queisser, A. | Pham, V. | +10

3

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

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

von De Bortoli, M. | Ivars, M. | Revencu, N. | +10

4

Tumour-agnostic plasma assay for circulating tumour DNA predicts outcome in recurrent and/or metastatic squamous cell carcinoma of the head and neck treated with a PD-1 inhibitor

enthalten in: European journal of cancer (Oxford, England : 1990) | 2023

von Honoré, N. | van der Elst, A. | Dietz, A. | +11

CommentOn: Eur J Cancer. 2023 Jul;188:29-38. - PMID 37182343

5

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants

enthalten in: Journal of medical genetics | 2023

von Alpaslan, M. | Mestré-Godin, S. | Lay, A. | +11

6

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum

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

von Atique Tacla, M. | de Mello Copelli, M. | Pairet, E. | +7

7

Rare variant association on unrelated individuals in case-control studies using aggregation tests : existing methods and current limitations

enthalten in: Briefings in bioinformatics | 2023

von Boutry, S. | Helaers, R. | Lenaerts, T. | +1

8

Excalibur : A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data

enthalten in: PLoS computational biology | 2023

von Boutry, S. | Helaers, R. | Lenaerts, T. | +1

9

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood : Natural History and Literature Review

enthalten in: Genes | 2023

von Copelli, M. | Pairet, E. | Atique-Tacla, M. | +5

10

Transcriptional drifts associated with environmental changes in endothelial cells

enthalten in: eLife | 2023

von Afshar, Y. | Ma, F. | Quach, A. | +11

CommentIn: Elife. 2023 May 09;12:. - PMID 37158991

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