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  • 1-10 of  803 results for ""X-linked intellectual disabilities""

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Academic Journal

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

Subjects: DIAGNOSIS of autism; BRAIN; GENETIC mutationSPAIN

  • Source: Journal of Autism & Developmental Disorders. Jan2024, Vol. 54 Issue 1, p379-388. 10p.

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Academic Journal

Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.

Subjects: TREATMENT of autism; ELECTROENCEPHALOGRAPHY; ARGININESAUDI Arabia

  • Source: Journal of Autism & Developmental Disorders. Mar2023, Vol. 53 Issue 3, p1273-1278. 6p. 2 Black and White Photographs.

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Academic Journal

A distinct cognitive profile in individuals with 3q29 deletion syndrome.

Subjects: COGNITION; CHROMOSOME abnormalities; X-linked intellectual disabilities

  • Source: Journal of Intellectual Disability Research. Mar2023, Vol. 67 Issue 3, p216-227. 12p. 1 Chart, 5 Graphs.

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Academic Journal

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.

Subjects: HUMAN abnormality genetics; GENETICS of autism; PROTEINS

  • Source: Journal of Autism & Developmental Disorders. Nov2022, Vol. 52 Issue 11, p5033-5041. 9p. 4 Diagrams, 1 Chart.

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Academic Journal

The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.

Subjects: MEDICAL history taking; PHYSICAL diagnosis; OCCUPATIONAL roles

  • Source: Children; May2024, Vol. 11 Issue 5, p578, 15p

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Academic Journal

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.

Subjects: PHYSICAL therapy; THYROXINE; EARLY medical intervention

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Mar2024, Vol. 16 Issue 1, p116-122, 7p

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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: STATISTICS; GENETIC mutation; ALPHA-Thalassemia

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

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Academic Journal

Genetics Corner: An infant with a CHARGE-like syndrome and dual diagnoses: Xq28 duplication and Exon 38/39 KMT2D Missense Variant syndrome.

Subjects: ECHOCARDIOGRAPHY; GENETIC testing; DIFFERENTIAL diagnosis

  • Source: Neonatology Today; Nov2023, Vol. 18 Issue 11, p159-162, 4p

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Academic Journal

A Newly Identified Int22h1/Int22h2‐Mediated Xq28 Duplication Syndrome Case Misdiagnosed as Cerebral Palsy.

Subjects: MICROARRAY technology; MAGNETIC resonance imaging; X-linked intellectual disabilities

  • Source: Journal of Pediatric Neurology; Oct2023, Vol. 21 Issue 5, p360-364, 5p

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Academic Journal

Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges.

Subjects: SERIAL publications; EARLY medical intervention; INFANT development

  • Source: Journal of Clinical Research in Pediatric Endocrinology; Mar2024, Vol. 16 Issue 1, p1-3, 3p

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  • 1-10 of  803 results for ""X-linked intellectual disabilities""