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1 . Academic Journal
Advertising Agency and Communication, in Government Institutions in Los
Rios
Province
저자
by
Sanchez Vidal, Carlos Raul
;
Aleman Franco, Iralda Marlene
;
Piedrahita, Manuel Elias
.
소스
12 Opuntia Brava 407 (2020) / Opuntia Brava, Vol. 12, Issue 1 (January-March 2020), pp. 407-413
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5 . Academic Journal
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome
저자
by
Hennocq, Quentin
;
Willems, Marjolaine
;
Amiel, Jeanne
;
Arpin, Stéphanie
;
Attie-Bitach, Tania
, et al.
소스
Scientific Reports
. 14(1)
Web of Science
Scopus
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7 . Academic Journal
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
저자
by
Husson, Thomas
;
Lecoquierre, François
;
Nicolas, Gaël
;
Richard, Anne-Claire
;
Afenjar, Alexandra
, et al.
소스
European Journal of Human Genetics
. 32(2):190-199
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7 . Academic Journal
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome
저자
by
Quentin Hennocq
;
Marjolaine Willems
;
Jeanne Amiel
;
Stéphanie Arpin
;
Tania Attie-Bitach
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Characteristics and outcomes of COVID-19 patients admitted to hospital with and without respiratory symptoms
저자
by
Barbara Wanjiru Citarella
;
Christiana Kartsonaki
;
Elsa D. Ibáñez-Prada
;
Bronner P. Gonçalves
;
Joaquin Baruch
, et al.
소스
Heliyon, Vol 10, Iss 10, Pp e29591- (2024)
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7 . Academic Journal
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
저자
by
Engel, Camille
;
Valence, Stéphanie
;
Delplancq, Geoffroy
;
Maroofian, Reza
;
Accogli, Andrea
, et al.
소스
European Journal of Human Genetics
. 31(9):1023-1031
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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
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
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by
Nicolle, Romain
;
Altin, Nami
;
Siquier-Pernet, Karine
;
Salignac, Sherlina
;
Blanc, Pierre
, et al.
소스
BMC Medical Genomics
. 16(1)
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7 . 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
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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