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1 . Academic Journal
De novo variants in DENND5B cause a neurodevelopmental disorder
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
;
Allworth, Aimee
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):529-543
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7 . Academic Journal
Reducing the imperviousness of urban soils to enhance the quality of surface water: obstacles and levers to implementing ecological runoff management in the south of France
저자
by
Gramaglia, Christelle
;
Rio, Marlène
;
Salles, Christian
;
Tournoud, Marie-George
.
소스
In
Journal of Hydrology
June 2024 636
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6 . Academic Journal
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype
저자
by
Papadopoulos, Thalia
;
Gaignard, Pauline
;
Schiff, Manuel
;
Rio, Marlène
;
Karall, Daniela
, et al.
소스
In
European Journal of Medical Genetics
February 2024 67
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7 . Academic Journal
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
저자
by
Sabbagh, Quentin
;
Haghshenas, Sadegheh
;
Piard, Juliette
;
Trouvé, Chloé
;
Amiel, Jeanne
, et al.
소스
In
Genetics in Medicine
January 2024 26(1)
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7 . Academic Journal
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
저자
by
Attié-Bitach, Tania
;
Comier-Daire, Valerie
;
Rozet, Jean-Michel
;
Frishberg, Yaacov
;
Llanas, Brigitte
, et al.
소스
In
Kidney International
August 2023 104(2):378-387
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7 . Academic Journal
Computational diagnostic methods on 2D photographs: A review of the literature
저자
by
Hennocq, Quentin
;
Khonsari, Roman Hossein
;
Benoît, Vincent
;
Rio, Marlène
;
Garcelon, Nicolas
.
소스
In
Journal of Stomatology oral and Maxillofacial Surgery
September 2021 122(4):e71-e75
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7 . Academic Journal
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
저자
by
Mercati, Oriane
;
Abi Warde, Marie-Thérèse
;
Lina-Granade, Geneviève
;
Rio, Marlène
;
Heide, Solveig
, et al.
소스
In
European Journal of Medical Genetics
November 2020 63(11)
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7 . Academic Journal
An original urban land cover representation and its effects on rain event-based runoff and TSS modelling
저자
by
Rio, Marlène
;
Salles, Christian
;
Cernesson, Flavie
;
Marchand, Pierre
;
Tournoud, Marie-George
.
소스
In
Journal of Hydrology
July 2020 586
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7 . Academic Journal
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.
저자
by
Billes, Alexis
;
Pujalte, Mathilde
;
Jedraszak, Guillaume
;
Amsallem, Daniel
;
Boudry‐Labis, Elise
, et al.
소스
Clinical Genetics
. Apr2024, p1. 13p. 3 Illustrations, 1 Chart.
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7 . Academic Journal
De novo variants in DENND5B cause a neurodevelopmental disorder.
저자
by
Scala, Marcello
;
Tomati, Valeria
;
Ferla, Matteo
;
Lena, Mariateresa
;
Cohen, Julie S.
, et al.
소스
American Journal of Human Genetics
. Mar2024, Vol. 111 Issue 3, p529-543. 15p.
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