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1 . Academic Journal
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids
저자
by
Hassan Saei
;
Marie Boisson
;
Christelle Arrondel
;
Bruno Estebe
;
Nicolas Cagnard
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101032- (2024)
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7 . Academic Journal
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
저자
by
Hassan Saei
;
Jessica Kachmar
;
Vincent Morinière
;
Laurence Heidet
;
Olivier Gribouval
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101065- (2024)
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7 . Academic Journal
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
저자
by
Romain Nicolle
;
Nami Altin
;
Karine Siquier-Pernet
;
Sherlina Salignac
;
Pierre Blanc
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla
저자
by
Aude Tessier
;
Nathalie Roux
;
Lucile Boutaud
;
Elodie Lunel
;
Leila Hakkakian
, et al.
소스
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures
저자
by
Hortense Didier-Mathon
;
Athanasia Stoupa
;
Dulanjalee Kariyawasam
;
Sonny Yde
;
Beatrix Cochant-Priollet
, et al.
소스
Frontiers in Endocrinology, Vol 14 (2023)
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7 . Academic Journal
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
저자
by
Guillaume Cogan
;
Nicolas Bourgon
;
Roxana Borghese
;
Emmanuel Julien
;
Aurélia Jaquette
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
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7 . Academic Journal
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease
저자
by
Hassan Saei
;
Vincent Morinière
;
Laurence Heidet
;
Olivier Gribouval
;
Said Lebbah
, et al.
소스
iScience, Vol 26, Iss 7, Pp 107171- (2023)
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7 . Academic Journal
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
저자
by
Aurélie Mouka
;
Brahim Arkoun
;
Pauline Moison
;
Loïc Drévillon
;
Rafika Jarray
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
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7 . Academic Journal
Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity
저자
by
Raphaël Dos Reis
;
Etienne Kornobis
;
Alyssa Pereira
;
Frederic Tores
;
Judit Carrasco
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
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7 . Academic Journal
Somatic genetic rescue of a germline ribosome assembly defect
저자
by
Shengjiang Tan
;
Laëtitia Kermasson
;
Christine Hilcenko
;
Vasileios Kargas
;
David Traynor
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
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