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11 . Academic Journal
An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease.
저자
by
Aloui, Chaker
;
Neumann, Lisa
;
Bergametti, Françoise
;
Sartori, Eric
;
Herbreteau, Marc
, et al.
소스
JAMA Network Open; 4/17/2024, Vol. 7 Issue 4, pe247034-e247034, 1p
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17 . Periodical
Prenatal Diagnosis of COL4A1Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype
저자
by
Gubana, Francesca
;
Christov, Christo
;
Coste, Thibault
;
Tournier-Lasserve, Elisabeth
;
Benachi, Alexandra
, et al.
소스
Pediatric and Developmental Pathology; July 2022, Vol. 25 Issue: 4 p435-446, 12p
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17 . Academic Journal
End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
저자
by
Aloui, Chaker
;
Hervé, Dominique
;
Marenne, Gaelle
;
Savenier, Florian
;
Le Guennec, Kilan
, et al.
소스
Annals of Neurology
. Dec2021, Vol. 90 Issue 6, p962-975. 14p.
Full Text (Wiley)
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17 . Academic Journal
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
저자
by
Coste, Thibault
;
Hervé, Dominique
;
Neau, Jean Philippe
;
Jouvent, Eric
;
Ba, Fatoumata
, et al.
소스
Brain: A Journal of Neurology
. Sep2021, Vol. 144 Issue 9, p2616-2624. 9p.
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17 . Academic Journal
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
저자
by
Grangeon, Lou
;
Cassinari, Kévin
;
Rousseau, Stéphane
;
Croisile, Bernard
;
Formaglio, Maïté
, et al.
소스
Neurology: Genetics
. Oct 01, 2021 7(5):e609-e609
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17 . Academic Journal
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) – Still to be Considered in the Presence of Vascular Risk Factors.
저자
by
Ganesan, Dinesh Naidu
;
Coste, Thibault
;
Venketasubramanian, Narayanaswamy
.
소스
Case Reports in Neurology
. 2020 Supplement, Vol. 12, p196-201. 6p.
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15 . Academic Journal
Prise en charge des complications infectieuses ou érosives des prothèses de rectopéxie ventrale par promontofixation laproscopique
저자
by
Borie, Frédéric
;
Coste, Thibault
;
Guillon, Françoise
.
소스
In
Journal de Chirurgie Viscérale
October 2014 151(4) Supplement:A12-A12
Full Text (ScienceDirect)
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15 . Academic Journal
Evaluation of NM-BAPTA method for plasma total calcium measurement on Cobas 8000®.
저자
by
Bourguignon, Chloé
;
Dupuy, Anne Marie
;
Coste, Thibault
;
Michel, Françoise
;
Cristol, Jean Paul
.
소스
Clinical Biochemistry
. May2014, Vol. 47 Issue 7/8, p636-639. 4p.
Full Text (ScienceDirect)
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17 . Academic Journal
Discrepancy Between Clinical and Pathologic Nodal Status of Esophageal Cancer and Impact on Prognosis and Therapeutic Strategy
저자
by
Markar, Sheraz R.
;
Gronnier, Caroline
;
Pasquer, Arnaud
;
Duhamel, Alain
;
Behal, Hélène
, et al.
소스
Annals of Surgical Oncology
. :1-10
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17 . Academic Journal
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations
저자
by
Lode, Laurence
;
Ameur, Adam
;
Coste, Thibault
;
Menard, Audrey
;
Richebourg, Steven
, et al.
소스
HAEMATOLOGICA
; JAN 2018, 103 1, pe13 4p.
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