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1 . Academic Journal
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
저자
by
Bisciglia, Michela
;
Kadhim, Hazim
;
Lecomte, Sophie
;
Vandernoot, Isabelle
;
Desmyter, Laurence
, et al.
소스
Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 4, p871-875, 5p
Web of Science
Scopus
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7 . Academic Journal
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
저자
by
Baptista Freitas, Marta
;
Desmyter, Laurence
;
Badoer, Cindy
;
Smits, Guillaume
;
Vandernoot, Isabelle
, et al.
소스
European Journal of Human Genetics
. 32(8):980-986
Web of Science
Scopus
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7 . Academic Journal
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).
저자
by
Giuili, Edoardo
;
Grolaux, Robin
;
Macedo, Catarina Z. N. M.
;
Desmyter, Laurence
;
Pichon, Bruno
, et al.
소스
Human Genetics
. Dec2023, Vol. 142 Issue 12, p1721-1735. 15p.
Web of Science
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7 . Academic Journal
Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
저자
by
Coppens, Sandra
;
Desmyter, Laurence
;
Koch, Manuel
;
Özcelik, Semra
;
O'Heir, Emily
, et al.
소스
American Journal of Medical Genetics. Part A; May2022, Vol. 188 Issue 5, p1556-1561, 6p
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7 . Periodical
Prevalence and clinical impact of tumor BRCA1 and BRCA2mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer
저자
by
Martinez Chanza, Nieves
;
Bernard, Brandon
;
Barthelemy, Philippe
;
Accarain, Anna
;
Paesmans, Marianne
, et al.
소스
Prostate Cancer and Prostatic Diseases; February 2022, Vol. 25 Issue: 2 p199-207, 9p
Web of Science
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7 . Academic Journal
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.
저자
by
Remiche, Gauthier
;
Vandernoot, Isabelle
;
Sadeghi-Meibodi, Niloufar
;
Desmyter, Laurence
.
소스
Neurogenetics; Mar2021, Vol. 22 Issue 1, p95-101, 7p
Web of Science
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6 . Academic Journal
Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways.
저자
by
Duerinckx, Sarah
;
Jacquemin, Valérie
;
Drunat, Séverine
;
Vial, Yoann
;
Passemard, Sandrine
, et al.
소스
Human Mutation; Feb2020, Vol. 41 Issue 2, p512-524, 13p
Web of Science
Scopus
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7 . Academic Journal
Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer
저자
by
Martinez Chanza, Nieves
;
Bernard, Brandon
;
Barthelemy, Philippe
;
Accarain, Anna
;
Paesmans, Marianne
, et al.
소스
Prostate Cancer and Prostatic Diseases
. 25(2):199-207
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
저자
by
Duerinckx, Sarah
;
Meuwissen, Marije
;
Perazzolo, Camille
;
Desmyter, Laurence
;
Pirson, Isabelle
, et al.
소스
Molecular Genetics & Genomic Medicine
. Jul2018, Vol. 6 Issue 4, p660-665. 6p.
Open Access (Wiley)
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7 . Academic Journal
Severe congenital microcephaly with AP4M1 mutation, a case report.
저자
by
Duerinckx, Sarah
;
Verhelst, Helene
;
Perazzolo, Camille
;
David, Philippe
;
Desmyter, Laurence
, et al.
소스
BMC Medical Genetics
. 5/2/2017, Vol. 18, p1-5. 5p.
Open Access (BioMed Central)
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