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1 . Academic Journal
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
저자
by
Nicolas, Gaël
;
Zaréa, Aline
;
Lacour, Morgane
;
Quenez, Olivier
;
Rousseau, Stéphane
, et al.
소스
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Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France
저자
by
Lançon, Allan
;
Beaudouin, Amandine
;
Lambert, Laetitia
;
Baurand, Amandine
;
Petit, Estelle
, et al.
소스
In
European Journal of Medical Genetics
October 2023 66(10)
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7 . Academic Journal
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
저자
by
Cunha, Paulina
;
Petit, Emilien
;
Coutelier, Marie
;
Coarelli, Giulia
;
Mariotti, Caterina
, et al.
소스
In
The American Journal of Human Genetics
6 July 2023 110(7):1098-1109
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7 . Academic Journal
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
저자
by
Denommé-Pichon, Anne-Sophie
;
Collins, Stephan C.
;
Bruel, Ange-Line
;
Mikhaleva, Anna
;
Wagner, Christel
, et al.
소스
In
Genetics in Medicine
July 2023 25(7)
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7 . Academic Journal
MDC1 maintains active elongation complexes of RNA polymerase II
저자
by
Pappas, George
;
Munk, Sebastian Howen Nesgaard
;
Watanabe, Kenji
;
Thomas, Quentin
;
Gál, Zita
, et al.
소스
In
Cell Reports
31 January 2023 42(1)
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7 . Academic Journal
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
저자
by
Delanne, Julian
;
Lecat, Magaly
;
Blackburn, Patrick R.
;
Klee, Eric W.
;
Stumpel, Constance T.R.M.
, et al.
소스
In
European Journal of Medical Genetics
January 2023 66(1)
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7 . Academic Journal
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
저자
by
Vitobello, Antonio
;
Mazel, Benoit
;
Lelianova, Vera G.
;
Zangrandi, Alice
;
Petitto, Evelina
, et al.
소스
In
The American Journal of Human Genetics
4 August 2022 109(8):1436-1457
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7 . Academic Journal
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
저자
by
Thomas, Quentin
;
Gautier, Thierry
;
Marafi, Dana
;
Besnard, Thomas
;
Willems, Marjolaine
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1901-1911
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7 . Academic Journal
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.
저자
by
Engel, Camille
;
Chevarin, Martin
;
Piard, Juliette
;
Abad, Marine
;
Thomas, Quentin
, et al.
소스
Clinical Genetics
. May2024, Vol. 105 Issue 5, p581-583. 3p.
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7 . Academic Journal
Tropical Cyclone Supercell Response to the Coast Using a Climatology of Radar‐Derived Azimuthal Shear.
저자
by
Alford, A. Addison
;
Messersmith, Andrew
;
Pollock, Bruce
;
Thomas, Quentin
;
Sandmæl, Thea N.
, et al.
소스
Geophysical Research Letters
. 11/28/2023, Vol. 50 Issue 22, p1-10. 10p.
Open Access (Wiley)
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