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21 . Academic Journal
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
저자
by
Sara Gonçalves
;
Julie Patat
;
Maria Clara Guida
;
Noelle Lachaussée
;
Christelle Arrondel
, et al.
소스
PLoS Genetics, Vol 14, Iss 10, p e1007748 (2018)
Open Access (DOAJ)
Web of Science
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27 . Academic Journal
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
저자
by
Sara Gonçalves
;
Julie Patat
;
Maria Clara Guida
;
Noelle Lachaussée
;
Christelle Arrondel
, et al.
소스
PLoS Genetics, Vol 14, Iss 5, p e1007386 (2018)
Open Access (DOAJ)
Web of Science
Scopus
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27 . Academic Journal
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
저자
by
Quentin B Vincent
;
Aziz Belkadi
;
Cindy Fayard
;
Estelle Marion
;
Ambroise Adeye
, et al.
소스
PLoS Neglected Tropical Diseases, Vol 12, Iss 4, p e0006429 (2018)
Open Access (DOAJ)
Web of Science
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27 .
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases
저자
by
Kalliopi Chatzovoulou
;
Anne Mayeur
;
Nicolas Cagnard
;
Mohammed Zarhrate
;
Christine Bole
, et al.
소스
Human Reproduction
. 38:992-1002
Full Text (OUP)
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27 .
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect
저자
by
Lucile Boutaud
;
Benedetta Ruzzenente
;
Aude Tessier
;
Olivia Anselem
;
Emmanuelle Pannier
, et al.
소스
Brain
. 146:1804-1811
Full Text (OUP)
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27 .
A wave of deep intronic mutations in X-linked Alport Syndrome
저자
by
Marie Boisson
;
Christelle Arrondel
;
Nicolas Cagnard
;
Vincent Morinière
;
Zaïna Aït Arkoub
, et al.
소스
Kidney International
.
Scopus
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27 .
Frequent Alterations of Driver Genes in Chromosome X and Their Clinical Relevance in Extranodal NK/T-Cell Lymphoma
저자
by
Yuta Ito
;
Amira Marouf
;
Yasunori Kogure
;
Junji Koya
;
Mariko Tabata
, et al.
소스
Blood
. 140:1737-1739
Full Text (ScienceDirect O/A)
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27 .
Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia
저자
by
Sarah Faggetter
;
Alina Ferster
;
Laurence Dedeken
;
Anne Demulder
;
Ludvine David‐Nguyen
, et al.
소스
Pediatric bloodcancer
.
Full Text (Wiley)
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27 .
BOREALIN/CDCA8 is necessary for an adequate thyroid morphogenesis and aging
저자
by
Hortense Dider-Mathon
;
Athanasia Stoupa
;
Dulanjalee Kariyawasam
;
Sonny Ydes
;
Nicolas Cagnard
, et al.
소스
Endocrine Abstracts
.
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27 .
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation
저자
by
Marion Coolen
;
Nami Altin
;
Karthyayani Rajamani
;
Eva Pereira
;
Karine Siquier-Pernet
, et al.
소스
American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
Am J Hum Genet
Open Access (OpenAIRE)
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