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1 . Academic Journal
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
저자
by
Asma Chikhaoui
;
Ichraf Kraoua
;
Nadège Calmels
;
Sami Bouchoucha
;
Cathy Obringer
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
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7 . Academic Journal
Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B
저자
by
Rayanne Damaj-Fourcade
;
Nicolas Meyer
;
Cathy Obringer
;
Nicolas Le May
;
Nadège Calmels
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
저자
by
Inès Barthélémy
;
Nadège Calmels
;
Robert B. Weiss
;
Laurent Tiret
;
Adeline Vulin
, et al.
소스
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
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7 . Academic Journal
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
저자
by
Khouloud Zayoud
;
Ichraf Kraoua
;
Asma Chikhaoui
;
Nadège Calmels
;
Sami Bouchoucha
, et al.
소스
Genes, Vol 12, Iss 12, p 1922 (2021)
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7 . Academic Journal
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
저자
by
Nadège Calmels
;
Stéphane Schmucker
;
Marie Wattenhofer-Donzé
;
Alain Martelli
;
Nadège Vaucamps
, et al.
소스
PLoS ONE, Vol 4, Iss 7, p e6379 (2009)
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7 .
Recessive
NUP54
Variants Underlie Early‐Onset Dystonia with Striatal Lesions
저자
by
Philip Harrer
;
Audrey Schalk
;
Masaru Shimura
;
Sarah Baer
;
Nadège Calmels
, et al.
소스
Ann. Neurol. 93, 330-335 (2023)
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7 .
Diagnostic and severity scores for Cockayne syndrome
저자
by
M. A. Spitz
;
Nadège Calmels
;
N. Le May
;
Sarah Baer
;
Cathy Obringer
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2021, 16, ⟨10.1186/s13023-021-01686-8⟩
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7 .
Highlighting the Dystonic Phenotype Related to GNAO1
저자
by
Thomas Wirth
;
Giacomo Garone
;
Manju A. Kurian
;
Amélie Piton
;
Francisca Millan
, et al.
소스
MOVEMENT DISORDERS
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
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7 .
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature
저자
by
Tania Attié-Bitach
;
Sarah Baer
;
Jamel Chelly
;
Romain Favre
;
Ferechté Razavi
, et al.
소스
American Journal of Medical Genetics Part A
. 182:1236-1242
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7 .
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
저자
by
Jean-Louis Guéant
;
Lise Larrieu
;
Louise Tyvaert
;
Mehdi Benkirane
;
Jean-Marie Ravel
, et al.
소스
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (5), pp.1927-1937. ⟨10.1007/s00415-020-10348-x⟩
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