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1 . Academic Journal
Recurrent 'outsider' intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
저자
by
Lamisse Mansour-Hendili
;
Cyril Gitiaux
;
Madeleine Harion
;
Céline Latouche
;
Bénédicte Heron
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
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7 . Academic Journal
Prevalence and determinants of iron deficiency in cardiac amyloidosis
저자
by
Antoine Jobbé‐Duval
;
Mélanie Bézard
;
Stéphane Moutereau
;
Mounira Kharoubi
;
Silvia Oghina
, et al.
소스
ESC Heart Failure, Vol 9, Iss 2, Pp 1314-1327 (2022)
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7 . Academic Journal
Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis
저자
by
Mounira Kharoubi
;
Mélanie Bézard
;
Amaury Broussier
;
Arnault Galat
;
Romain Gounot
, et al.
소스
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
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7 . Academic Journal
History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis
저자
by
Mounira Kharoubi
;
Mélanie Bézard
;
Arnault Galat
;
Fabien Le Bras
;
Elsa Poullot
, et al.
소스
ESC Heart Failure, Vol 8, Iss 6, Pp 5501-5512 (2021)
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7 . Academic Journal
Exome sequencing for diagnosis of congenital hemolytic anemia
저자
by
Lamisse Mansour-Hendili
;
Abdelrazak Aissat
;
Bouchra Badaoui
;
Mehdi Sakka
;
Christine Gameiro
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
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7 . Academic Journal
NKX2.1 (TTF1) germline mutation associated with pulmonary fibrosis and lung cancer
저자
by
Raphael Borie
;
Benoit Funalot
;
Ralph Epaud
;
Céline Delestrain
;
Aurélie Cazes
, et al.
소스
ERJ Open Research, Vol 7, Iss 4 (2021)
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7 . Academic Journal
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
저자
by
Chadia Mekki
;
Abdel Aissat
;
Véronique Mirlesse
;
Sophie Mayer Lacrosniere
;
Elsa Eche
, et al.
소스
Genes, Vol 12, Iss 5, p 670 (2021)
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7 . Academic Journal
Genetic diagnosis of Mendelian disorders via RNA sequencing
저자
by
Laura S. Kremer
;
Daniel M. Bader
;
Christian Mertes
;
Robert Kopajtich
;
Garwin Pichler
, et al.
소스
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
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7 . Academic Journal
Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients
저자
by
Pierre-Antoine Faye
;
Nicolas Vedrenne
;
Federica Miressi
;
Marion Rassat
;
Sergii Romanenko
, et al.
소스
Brain Sciences, Vol 10, Iss 7, p 407 (2020)
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7 . Academic Journal
A highly specific microarray method for point mutation detection
저자
by
Yasser Baaj
;
Corinne Magdelaine
;
Virginie Ubertelli
;
Christophe Valat
;
Luc Talini
, et al.
소스
BioTechniques, Vol 44, Iss 1, Pp 119-126 (2008)
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