Suchergebnisse - "Harzallah, Inès"

PubPharm (48)

1

RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

enthalten in: bioRxiv.org | 2024

von Ranta-aho, J. | Felice, K. | Jonson, P. | +17

2

Severe Perinatal Presentations of Günther's Disease : Series of 20 Cases and Perspectives

enthalten in: Life (Basel, Switzerland) | 2024

von Goudet, C. | Ged, C. | Petit, A. | +11

3

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Ranta-Aho, J. | Felice, K. | Jonson, P. | +17

4

Anorectal Malformations are Part of the Phenotypic Spectrum of Coffin-Siris Syndrome: Case Report and Review of the Literature

enthalten in: Preprints.org | 2023

von Alharbi, R. | Suchet-Dechaud, A. | Touraine, R. | +2

5

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

enthalten in: ResearchSquare.com | 2023

von Husson, T. | Lecoquierre, F. | Nicolas, G. | +91

6

Heparin monitoring during extracorporeal membrane oxygenation : the effect of dextran sulfate on anti-Xa assay

enthalten in: Research and practice in thrombosis and haemostasis | 2023

von Hammami, E. | Stiel, L. | Palpacuer, C. | +1

7

Bundles of Auer rods in mature neutrophils in an acute myeloid leukaemia patient with inv(16)(p13.1q22) CBFB-MYH 11

enthalten in: British journal of haematology | 2023

von Rakotoarivelo, Z. | Lefebvre, T. | Lamarque, M. | +2

8

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases

enthalten in: Journal of medical genetics | 2022

von Testard, Q. | Vanhoye, X. | Yauy, K. | +34

9

Acquired Thrombotic Thrombocytopenic Purpura After BNT162b2 COVID-19 Vaccine : Case Report and Literature Review

enthalten in: Laboratory medicine | 2022

von Hammami, E. | Lamarque, M. | Aujoulat, O. | +3

10

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

enthalten in: American journal of human genetics | 2022

von Rosenhahn, E. | O'Brien, T. | Zaki, M. | +44

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