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1 . Academic Journal
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation
저자
by
Yeranuhi Hovhannisyan
;
Zhenlin Li
;
Domitille Callon
;
Rodolphe Suspène
;
Vivien Batoumeni
, et al.
소스
Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-23 (2024)
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7 . Academic Journal
Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene
저자
by
Pierre Joanne
;
Yeranuhi Hovhannisyan
;
Alexandre Simon
;
Gaëlle Revet
;
Romain Diot
, et al.
소스
Stem Cell Research, Vol 76, Iss , Pp 103338- (2024)
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7 . Academic Journal
Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model
저자
by
Brahim Arkoun
;
Elie Robert
;
Fabien Boudia
;
Stefania Mazzi
;
Virginie Dufour
, et al.
소스
The Journal of Clinical Investigation, Vol 132, Iss 14 (2023)
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7 . Academic Journal
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
저자
by
Aurélie Mouka
;
Brahim Arkoun
;
Pauline Moison
;
Loïc Drévillon
;
Rafika Jarray
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
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7 . Academic Journal
A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations
저자
by
Celine Chalas
;
Aline Receveur
;
Nelly Frydman
;
Nathalie Massin
;
Gerard Tachdjian
, et al.
소스
Basic and Clinical Andrology, Vol 30, Iss 1, Pp 1-6 (2020)
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7 . Academic Journal
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
저자
by
Lucie Tosca
;
Loïc Drévillon
;
Aurélie Mouka
;
Laure Lecerf
;
Audrey Briand
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
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7 . Academic Journal
Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet
저자
by
Aline Receveur
;
Sophie Brisset
;
Jelena Martinovic
;
Anne Bazin
;
Laurence Lhomann
, et al.
소스
Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 5, Pp 677-680 (2017)
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7 . Academic Journal
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
저자
by
Marie-Emmanuelle Naud
;
Lucie Tosca
;
Jelena Martinovic
;
Julien Saada
;
Corinne Métay
, et al.
소스
Case Reports in Genetics, Vol 2017 (2017)
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7 . Academic Journal
Transplantation of Macaca cynomolgus iPS-derived hematopoietic cells in NSG immunodeficient mice
저자
by
Soumeya Abed
;
Alisa Tubsuwan
;
Porntip Chaichompoo
;
In Hyun Park
;
Alice Pailleret
, et al.
소스
Haematologica, Vol 100, Iss 10 (2015)
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7 .
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia
저자
by
Marie Boisson
;
Anne‐Gael Cordier
;
Jelena Martinovic
;
Aline Receveur
;
Aurélie Mouka
, et al.
소스
Prenatal Diagnosis
. 42:1627-1635
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