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1 . Academic Journal
Defining the landscape of TIA1 and SQSTM1 digenic myopathy
저자
by
Panos-Basterra, Paula
;
Theuriet, Julian
;
Nadaj-Pakleza, Aleksandra
;
Magot, Armelle
;
Lannes, Beatrice
, et al.
소스
In
Neuromuscular Disorders
September 2024 42:43-52
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
저자
by
Fernández-Eulate, Gorka
;
Alfieri, Girolamo
;
Spinazzi, Marco
;
Ackermann-Bonan, Isabelle
;
Duval, Fanny
, et al.
소스
Journal of Neurology
. Jul2024, Vol. 271 Issue 7, p4008-4018. 11p.
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7 . Academic Journal
Titin copy number variations associated with dominant inherited phenotypes.
저자
by
Perrin, Aurélien
;
Métay, Corinne
;
Savarese, Marco
;
Ben Yaou, Rabah
;
Demidov, German
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p369-377, 11p
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7 . Academic Journal
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts
저자
by
Raymond, Laure
;
Francou, Bruno
;
Petit, François
;
Tosca, Lucie
;
Briand-Suleau, Audrey
, et al.
소스
In
European Journal of Medical Genetics
November 2015 58(11):591-596
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7 . Academic Journal
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
저자
by
Brisset, Sophie
;
Capri, Yline
;
Briand-Suleau, Audrey
;
Tosca, Lucie
;
Gras, Domitille
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):497-501
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7 . Academic Journal
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
저자
by
Onnée, Marion
;
Bénézit, Audrey
;
Bastu, Sultan
;
Nadaj-Pakleza, Aleksandra
;
Lannes, Béatrice
, et al.
소스
Biomedicines; Feb2024, Vol. 12 Issue 2, p322, 19p
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7 . Academic Journal
Dystrophies musculaires des ceintures associées aux mutations de TRIM32 : cohorte française et revue de la littérature
저자
by
Guérémy, Alexandre
;
Salort-Campana, Emmanuelle
;
Fortanier, Etienne
;
Magot, Armelle
;
Bouhour, Françoise
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S117-S117
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7 . Academic Journal
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
저자
by
Severa, Gianmarco
;
Pennisi, Alessandra
;
Barnerias, Christine
;
Fiorillo, Chiara
;
Scala, Marcello
, et al.
소스
Neuromuscular Disorders
. Oct2023, Vol. 33 Issue 10, p817-821. 5p.
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7 . Academic Journal
Genotype–phenotype correlation in 13q13.3–q21.3 deletion
저자
by
Tosca, Lucie
;
Brisset, Sophie
;
Petit, François M.
;
Metay, Corinne
;
Latour, Stéphanie
, et al.
소스
In
European Journal of Medical Genetics
2011 54(5):e489-e494
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