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  • 1-10 ل  16 نتائج ل ""Development and Disorders of Fetal Brain""
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Subject : ciliopathies
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Academic Journal

An infant with Joubert syndrome: A case report

Subjects: Pulmonary and Respiratory Medicine; 0301 basic medicine; Cell biology

  • Source: Radiol Case RepRadiology Case Reports, Vol 18, Iss 2, Pp 661-664 (2023)

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Academic Journal

Bilateral Morning Glory Syndrome with Bilateral Persistent Fetal Vasculature in a Patient with Joubert’s Syndrome

Subjects: Fetal MRI; Cell biology; Cilium

  • Source: Case Rep MedCase Reports in Medicine, Vol 2020 (2020)

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Academic Journal

Syntélencéphalie: variant inter hémisphérique médian de l'holoprosencéphalie

Subjects: Corpus callosum; Middle cerebral artery; 03 medical and health sciences

  • Source: Pan Afr Med J

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Academic Journal

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Subjects: 0301 basic medicine; Organogenesis; primary ciliary dyskinesia

  • Source: Dis Model MechDisease Models & Mechanisms, Vol 13, Iss 10 (2020)

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Academic Journal

Polycystin-2 (TRPP2) regulates primary cilium length in LLC-PK1 renal epithelial cells

Subjects: 0301 basic medicine; Cell biology; Cilium

  • Source: Front PhysiolFrontiers in Physiology, Vol 13 (2022)CONICET Digital (CONICET)Consejo Nacional de Investigaciones Científicas y Técnicas

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Academic Journal

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

Subjects: Male; 0301 basic medicine; Case Report

  • Source: BMC Med GenetBMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

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Academic Journal

Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes

Subjects: Male; Exome sequencing; 0301 basic medicine

  • Source: J Med GenetRoosing, S, Romani, M, Isrie, M, Rosti, R O, Micalizzi, A, Musaev, D, Mazza, T, Al-gazali, L, Altunoglu, U, Boltshauser, E, D'Arrigo, S, Keersmaecker, B D, Kayserili, H,

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Academic Journal

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Subjects: 0301 basic medicine; GLI2; Muscle Proteins

  • Source: J Med GenetJOURNAL OF MEDICAL GENETICSJournal of Medical GeneticsJournal of Medical Genetics, 2015, 52 (10), pp.657-665. ⟨10.1136/jmedgenet-2014-102838⟩Journal of Medical

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Academic Journal

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

Subjects: Male; Ependymal Cell; Gene Expression

  • Source: PLoS GenetPLoS Genetics, Vol 14, Iss 11, p e1007817 (2018)

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Academic Journal

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Subjects: Male; Fetal MRI; Cell biology

  • Source: American Journal of Neuroradiology. 31:424-429

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  • 1-10 ل  16 نتائج ل ""Development and Disorders of Fetal Brain""