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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
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity
저자
by
Francesca Vallese
;
Lorenzo Maso
;
Flavia Giamogante
;
Elena Poggio
;
Lucia Barazzuol
, et al.
소스
Cell Death and Disease, Vol 13, Iss 10, Pp 1-14 (2022)
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7 . Academic Journal
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
저자
by
Margot A. Cousin
;
Emma L. Veale
;
Nikita R. Dsouza
;
Swarnendu Tripathi
;
Robyn G. Holden
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
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7 . Academic Journal
The different clinical facets of SYN1-related neurodevelopmental disorders
저자
by
Ilaria Parenti
;
Elsa Leitão
;
Alma Kuechler
;
Laurent Villard
;
Cyril Goizet
, et al.
소스
Frontiers in Cell and Developmental Biology, Vol 10 (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
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
저자
by
Constantinos Papadopoulos
;
Edoardo Malfatti
;
Corinne Métay
;
Boris Keren
;
Elodie Lejeune
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 13, p 11181 (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
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
저자
by
Michael A. Levy
;
David B. Beck
;
Kay Metcalfe
;
Sofia Douzgou
;
Sivagamy Sithambaram
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
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7 . Academic Journal
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
저자
by
Ilaria Mannucci
;
Nghi D. P. Dang
;
Hannes Huber
;
Jaclyn B. Murry
;
Jeff Abramson
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
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7 . Academic Journal
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
저자
by
Marija Kojic
;
Tomasz Gawda
;
Monika Gaik
;
Alexander Begg
;
Anna Salerno-Kochan
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
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