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1 . Academic Journal
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
저자
by
Wilpert, Nina-Maria
;
Marguet, Florent
;
Maillard, Camille
;
Guimiot, Fabien
;
Martinovic, Jelena
, et al.
소스
In
European Journal of Medical Genetics
September 2021 64(9)
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7 . Periodical
Expanding the phenotypic spectrum of LIG4pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
저자
by
Nicolle, Romain
;
Boutaud, Lucile
;
Loeuillet, Laurence
;
Talhi, Naima
;
Grotto, Sarah
, et al.
소스
European Journal of Human Genetics: EJHG; May 2024, Vol. 32 Issue: 5 p545-549, 5p
Web of Science
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7 . Academic Journal
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
저자
by
Nicolle, Romain
;
Boutaud, Lucile
;
Loeuillet, Laurence
;
Talhi, Naima
;
Grotto, Sarah
, et al.
소스
European Journal of Human Genetics
. 32(5):545-549
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
저자
by
Boutaud, Lucile
;
Ruzzenente, Benedetta
;
Tessier, Aude
;
Anselem, Olivia
;
Pannier, Emmanuelle
, et al.
소스
Brain: A Journal of Neurology
. May2023, Vol. 146 Issue 5, p1804-1811. 8p.
Full Text (OUP)
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7 . Academic Journal
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
저자
by
Lajmi, Yosra
;
Loeuillet, Laurence
;
Petrilli, Giulia
;
Egloff, Charles
;
Nectoux, Juliette
, et al.
소스
Birth Defects Research; Mar2023, Vol. 115 Issue 5, p563-571, 9p
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7 . Academic Journal
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
저자
by
Coolen, Marion
;
Altin, Nami
;
Rajamani, Karthyayani
;
Pereira, Eva
;
Siquier-Pernet, Karine
, et al.
소스
American Journal of Human Genetics
. May2022, Vol. 109 Issue 5, p909-927. 19p.
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7 . Academic Journal
Failure of human rhombic lip differentiation underlies medulloblastoma formation
저자
by
Hendrikse, Liam D.
;
Haldipur, Parthiv
;
Saulnier, Olivier
;
Millman, Jake
;
Sjoboen, Alexandria H.
, et al.
소스
Nature: International weekly journal of science
. 609(7929):1021-1028
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7 . Academic Journal
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.
저자
by
Le Van Quyen, Pauline
;
Calmels, Nadège
;
Bonnière, Maryse
;
Chartier, Suzanne
;
Razavi, Féréchté
, et al.
소스
American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p1236-1242, 7p
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7 . Academic Journal
Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.
저자
by
Haldipur, Parthiv
;
Aldinger, Kimberly A.
;
Bernardo, Silvia
;
Mei Deng
;
Timms, Andrew E.
, et al.
소스
Science
. 10/25/2019, Vol. 366 Issue 6464, p454-460. 7p. 6 Diagrams.
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7 . Academic Journal
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation
저자
by
Haldipur, Parthiv
;
Bernardo, Silvia
;
Aldinger, Kimberly A.
;
Sivakumar, Tarika
;
Millman, Jake
, et al.
소스
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease
. 142(4):761-776
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