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Academic Journal

The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma

Subjects: glioma; alpha-thalassemia x-linked intellectual disability; immunohistochemistry

  • Source: Türk Nöroloji Dergisi, Vol 29, Iss 4, Pp 302-308 (2023)

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Academic Journal

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

Subjects: NONO; non-ossifying fibromas; left ventricular non-compaction cardiomyopathy

  • Source: Frontiers in Genetics, Vol 14 (2023)

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Academic Journal

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Subjects: IQSEC2 gene; Rett syndrome; X-linked intellectual disability

  • Source: Children, Vol 10, Iss 9, p 1442 (2023)

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Academic Journal

X-linked creatine transporter (SLC6A8) deficiency in females:Difficult to recognize, but a potentially treatable disease

Subjects: Creatine transporter deficiency; Female case report; Proton magnetic resonance spectroscopy

  • Source: Mejdahl Nielsen , M , Petersen , E T , Fenger , C D , Ørngreen , M C , Siebner , H R , Boer , V O , Považan , M , Lund , A , Grønborg , S W & Hammer , T B 2023 , '

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Academic Journal

Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C

Subjects: chromatin regulators; x-linked intellectual disability; learning and memory

  • Source: Cells; Volume 12; Issue 4; Pages: 637

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Academic Journal

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Subjects: X-linked intellectual disability; Xq28 duplication syndrome; Microduplication

  • Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 3, Pp 501-503 (2022)

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Academic Journal

A novel UBE2A splice site variant causing intellectual disability type Nascimento

Subjects: UBE2A splice site mutation (c.241 + 1 G > a); X‐linked intellectual disability type Nascimento; Medicine

  • Source: Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022)

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Academic Journal

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Subjects: PHF8; X-linked intellectual disability; orofacial clefting

  • Source: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)

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Academic Journal

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Subjects: Duplication 24 pb; ARX; X-linked intellectual disability

  • Source: BMC Research Notes, Vol 14, Iss 1, Pp 1-5 (2021)

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Academic Journal

Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients

Subjects: DDX3X; intellectual disability; DDX3X syndrome

  • Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

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  • 1-10 of  298 results for ""X-linked intellectual disability""