Search Results

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

• Authors : Anindita, Alva Sinung¹; Malueka, Rusdy Ghazali²; Hartanto, Rachmat Andi³

• Source: Turkish Journal of Neurology / Turk Noroloji Dergisi. Dec2023, Vol. 29 Issue 4, p302-308. 7p.

Record details

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

• Authors : Alva Sinung Anindita; Rusdy Ghazali Malueka; Rachmat Andi Hartanto

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

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

Record details

Unveiling a Novel THOC2 Mutation's Role in X-linked Intellectual Disability

• Authors : Mehdi Hashemipour; Ayad Neissi; Mostafa Neissi

Subjects: intellectual disability; thoc2 gene; mutation

• Source: International Journal of Biomedicine, Vol 14, Iss 2, Pp 352-356 (2024)

Record details

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.

• Authors : Mir, Atefeh¹ (AUTHOR); Song, Yongjun² (AUTHOR); Lee, Hane² (AUTHOR)

• Source: BMC Medical Genomics. 10/11/2023, Vol. 16 Issue 1, p1-20. 20p.

Record details

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

• Authors : Atefeh Mir; Yongjun Song; Hane Lee

Subjects: XLID; L1CAM; ZDHHC9

• Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-20 (2023)

Record details

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.

• Authors : Hosur, Bharat¹; Sinha, Rahul² ; Jain, Narendra K.¹

• Source: Neurology India. Sep/Oct2023, Vol. 71 Issue 5, p980-983. 4p.

Record details

Atlas of X-Linked Intellectual Disability Syndromes

• Authors : Roger E. Stevenson MD; Charles E. Schwartz; R. Curtis Rogers

Subjects: X-linked mental retardation; X-linked mental retardation--AtlasesMEDICAL / Evidence-Based Medicine; HEALTH & FITNESS / Diseases & Conditions / General; MEDICAL / Clinical Medicine

Record details

X-linked intellectual disability related to a novel variant of KLHL15

• Authors : Jun Kido; Kimiyasu Egami; Yohei Misumi

Subjects: Genetics; QH426-470; Life

• Source: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

Record details

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

• Authors : Pravat, Veronica M.; Muh, Villo; Gundogd, Mehmet

• Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Jul . 116(30), 14961-14970.

Record details

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability

• Authors : Sinan Li; Wenxin Zhang; Piao Liang

Subjects: intellectual disability; MRXSRC; CLCN4 gene

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

Record details