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Structure: Internal structure identifier : 253534
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Edoardo Malfatti , Vilma-Lotta Lehtokari , Johann Böhm , Josine de Winter , Ursula Schäffer et al.
Acta Neuropathologica Communications, 2014, 2 (1), pp.44. ⟨10.1186/2051-5960-2-44⟩
Journal articles inserm-00987739v1
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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

Laëtitia Kermasson , Dmitri Churikov , Aya Awad , Riham Smoom , Elodie Lainey et al.
Journal articles hal-03622423v2
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Jing Liu , Daniela Ottaviani , Meriem Sefta , Céline Desbrousses , Elodie Chapeaublanc et al.
Nature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Journal articles hal-03374490v1
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Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence

Zineb Sbihi , Kay Tanita , Camille Bachelet , Christine Bole , Fabienne Jabot-Hanin et al.
Journal of Clinical Immunology, 2022, 42 (3), pp.559-571. ⟨10.1007/s10875-021-01188-z⟩
Journal articles hal-03864194v1

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort , Carl E. Kutzner , Ying Hu , Xavière Lornage , John Rendu et al.
American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩
Journal articles hal-03668017v1
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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Anika Wehrle , Tomasz M Witkos , Sheila Unger , Judith Schneider , John A Follit et al.
JCI Insight, 2019, 4 (3), pp.e124701. ⟨10.1172/jci.insight.124701⟩
Journal articles hal-03664346v1