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1 . Academic Journal
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
저자
by
François Lecoquierre
;
Kévin Cassinari
;
Nathalie Drouot
;
Angèle May
;
Steeve Fourneaux
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
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7 . Academic Journal
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
저자
by
Valerie Jacquemin
;
Nassim Versbraegen
;
Sarah Duerinckx
;
Annick Massart
;
Julie Soblet
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
저자
by
Florent Marguet
;
Myriam Vezain
;
Pascale Marcorelles
;
Séverine Audebert-Bellanger
;
Kévin Cassinari
, et al.
소스
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)
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7 . Academic Journal
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
저자
by
Thomas Husson
;
François Lecoquierre
;
Kevin Cassinari
;
Camille Charbonnier
;
Olivier Quenez
, et al.
소스
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
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7 . Academic Journal
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
저자
by
Myriam Vezain
;
Matthieu Lecuyer
;
Marina Rubio
;
Valérie Dupé
;
Leslie Ratié
, et al.
소스
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-23 (2018)
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7 . Academic Journal
Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus
저자
by
Arie Horowitz
;
Pascale Saugier-Veber
;
Vianney Gilard
.
소스
Frontiers in Cellular Neuroscience, Vol 14 (2020)
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5 . Academic Journal
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
저자
by
Pascale Saugier-Veber
;
Florent Marguet
;
François Lecoquierre
;
Homa Adle-Biassette
;
Fabien Guimiot
, et al.
소스
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-12 (2017)
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7 . Academic Journal
Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
저자
by
Junning Yang
;
Claire Simonneau
;
Robert Kilker
;
Laura Oakley
;
Matthew D Byrne
, et al.
소스
EMBO Molecular Medicine, Vol 11, Iss 1, Pp n/a-n/a (2019)
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7 . Academic Journal
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
저자
by
Ivana Dabaj
;
Bénédicte Sudrié-Arnaud
;
François Lecoquierre
;
Kimiyo Raymond
;
Franklin Ducatez
, et al.
소스
Life, Vol 11, Iss 3, p 187 (2021)
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7 . Academic Journal
Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies
저자
by
Edgardo Corral
;
Andres Barrios
;
Monica Isnard
;
Pascale Saugier-Veber
;
Sophie M. Fortier
, et al.
소스
Case Reports in Obstetrics and Gynecology, Vol 2015 (2015)
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