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1 . Academic Journal
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
저자
by
Elsa Leitão
;
Christopher Schröder
;
Ilaria Parenti
;
Carine Dalle
;
Agnès Rastetter
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
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7 . Academic Journal
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
저자
by
Patricia Pascual
;
Jair Tenorio-Castano
;
Cyril Mignot
;
Alexandra Afenjar
;
Pedro Arias
, et al.
소스
Genes, Vol 14, Iss 9, p 1664 (2023)
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7 . Academic Journal
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
저자
by
Estelle Colin
;
Yannis Duffourd
;
Emilie Tisserant
;
Raissa Relator
;
Ange-Line Bruel
, et al.
소스
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
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7 . Academic Journal
Neuropilin-1 cooperates with PD-1 in CD8+ T cells predicting outcomes in melanoma patients treated with anti-PD1
저자
by
Julien Rossignol
;
Zakia Belaid
;
Guillemette Fouquet
;
Flavia Guillem
;
Rachel Rignault
, et al.
소스
iScience, Vol 25, Iss 6, Pp 104353- (2022)
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7 . Academic Journal
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
저자
by
Catherine Lejeune
;
Charley Robert-Viard
;
Nicolas Meunier-Beillard
;
Myriam Alice Borel
;
Léna Gourvès
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study
저자
by
Christine Binquet
;
Catherine Lejeune
;
Laurence Faivre
;
Marion Bouctot
;
Marie-Laure Asensio
, et al.
소스
Frontiers in Genetics, Vol 12 (2022)
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7 . Academic Journal
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
저자
by
Laure Asselin
;
José Rivera Alvarez
;
Solveig Heide
;
Camille S. Bonnet
;
Peggy Tilly
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
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7 . Academic Journal
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
저자
by
Vincenzo Salpietro
;
Christine L. Dixon
;
Hui Guo
;
Oscar D. Bello
;
Jana Vandrovcova
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
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7 . Academic Journal
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration
저자
by
Kévin Duarte
;
Solveig Heide
;
Sandrine Poëa-Guyon
;
Véronique Rousseau
;
Christel Depienne
, et al.
소스
Neurobiology of Disease, Vol 136, Iss , Pp 104709- (2020)
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7 . Academic Journal
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
저자
by
Valérie Biancalana
;
Norma B. Romero
;
Inger Johanne Thuestad
;
Jaakko Ignatius
;
Janne Kataja
, et al.
소스
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-3 (2018)
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