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  • 1-8 of  8 نتائج ل ""Adolescent""

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Publisher : wiley Collection : Hal Lyon 1 (University Claude Bernard Lyon 1)
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Academic Journal

Clinical characteristics and outcomes for children, adolescents and young adults with “CIC‐fused” or “BCOR‐rearranged” soft tissue sarcomas: A multi‐institutional European retrospective analysis

Subjects: BCOR rearrangement; CIC-DUX fusion transcript; YWHAE fusion transcript

  • Source: ISSN: 2045-7634.

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Academic Journal

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

Subjects: MESH: Adolescent; MESH: Adult; MESH: Muscle Strength

  • Source: EISSN: 2328-9503 ; Annals of Clinical and Translational Neurology ; https://hal.sorbonne-universite.fr/hal-03426396 ; Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.359-373.

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Academic Journal

Growth charts in Kabuki syndrome 1

Subjects: Kabuki syndrome; Growth; Growth hormone deficiency

  • Source: ISSN: 1552-4825.

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Academic Journal

Middle short gyrus of the insula implicated in speech production: intracerebral electric stimulation of patients with epilepsy.

Subjects: Insula; Speech; Epilepsy

  • Source: ISSN: 0013-9580.

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Academic Journal

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 0364-5134.

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Academic Journal

Health‐related quality of life in infants and children with interstitial lung disease

Subjects: chILD; children; interstitial lung disease

  • Source: ISSN: 8755-6863.

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Academic Journal

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

Subjects: lipoatrophy; SHORT syndrome; PIK3R1 gene

  • Source: ISSN: 0009-9163.

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Academic Journal

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

Subjects: [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis; [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

  • Source: ISSN: 0197-3851.

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  • 1-8 of  8 نتائج ل ""Adolescent""