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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Edoardo Malfatti
,
Vilma-Lotta Lehtokari
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Johann Böhm
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Josine de Winter
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Ursula Schäffer
et al.
Journal articles
inserm-00987739v1
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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects
Laëtitia Kermasson
,
Dmitri Churikov
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Aya Awad
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Riham Smoom
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Elodie Lainey
et al.
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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
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Daniela Ottaviani
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Meriem Sefta
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Céline Desbrousses
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Elodie Chapeaublanc
et al.
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
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Kay Tanita
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Camille Bachelet
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Christine Bole
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Fabienne Jabot-Hanin
et al.
Journal articles
hal-03864194v1
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort
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Carl E. Kutzner
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Ying Hu
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Xavière Lornage
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John Rendu
et al.
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.
Journal articles
hal-03664346v1
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