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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Chiara Olcese
,
Mitali Patel
,
Amelia Shoemark
,
Santeri Kiviluoto
,
Marie Legendre
et al.
Article dans une revue
hal-01560951v1
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
T. Smol
,
F. Petit
,
A. Piton
,
B. Keren
,
D. Sanlaville
et al.
Article dans une revue
hal-02393664v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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Copy number variations in DCC/ 18q and ERBB2/ 17q are associated with disease-free survival in microsatellite stable colon cancer
David Sefrioui
,
Thomas Vermeulin
,
France Blanchard
,
Caroline Chapusot
,
Ludivine Beaussire
et al.
Article dans une revue
hal-02353187v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Anne-Laure Mosca-Boidron
,
Lucie Gueneau
,
Guillaume Huguet
,
Alice Goldenberg
,
Céline Henry
et al.
Article dans une revue
pasteur-01342825v1
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
S. Baer
,
A. Afenjar
,
T. Smol
,
A. Piton
,
B. Gérard
et al.
Article dans une revue
hal-02393652v1
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Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Gaël Nicolas
,
Cyril Pottier
,
Camille Charbonnier
,
Lucie Guyant-Maréchal
,
Isabelle Le Ber
et al.
Article dans une revue
hal-01133847v1
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot
,
Alice Masurel
,
Salima El Chehadeh
,
Anne-Laure Mosca-Boidron
,
Christel Thauvin-Robinet
et al.
Article dans une revue
hal-01400905v1
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