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1 . Academic Journal
P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing
저자
by
Atteeq Rehman
;
Amanda Thomas-Wilson
;
Frederic Tran Mau-Them
;
Leandra Tolusso
;
Avinash Abyankar
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)
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7 . Academic Journal
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
저자
by
Frédéric Tran Mau-Them
;
Julian Delanne
;
Anne-Sophie Denommé-Pichon
;
Hana Safraou
;
Ange-Line Bruel
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
P612: Application of prenatal exome sequencing in fetuses with multiple congenital sonographic abnormalities: A report of three cases
저자
by
Minh-Tuan Huynh
;
Stéphanie Potel
;
Sophie Degre
;
Anne Panchout
;
Cathy Bréon
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100668- (2023)
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7 . Academic Journal
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
저자
by
Clarisse Billon
;
Salma Adham
;
Natalia Hernandez Poblete
;
Anne Legrand
;
Michael Frank
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
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7 . Academic Journal
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20
저자
by
Marguerite Hureaux
;
Sandra Chantot-Bastaraud
;
Kévin Cassinari
;
Edouard Martinez Casado
;
Ariane Cuny
, et al.
소스
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging
저자
by
Ivana Dabaj
;
Justine Ferey
;
Florent Marguet
;
Vianney Gilard
;
Carole Basset
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (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.
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Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
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7 . Academic Journal
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
저자
by
Céline Bordet
;
Sandrine Brice
;
Carole Maupain
;
Estelle Gandjbakhch
;
Bertrand Isidor
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 5, p 1365 (2020)
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7 . Academic Journal
Genome microevolution of chikungunya viruses causing the Indian Ocean outbreak.
저자
by
Isabelle Schuffenecker
;
Isabelle Iteman
;
Alain Michault
;
Séverine Murri
;
Lionel Frangeul
, et al.
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PLoS Medicine, Vol 3, Iss 7, p e263 (2006)
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7 .
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
저자
by
Tiffany Busa
;
Anaïs Brassier
;
Agathe Roubertie
;
Bénédicte Héron
;
M. Tardieu
, et al.
소스
Journal of Medical Genetics
. 59:377-384
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