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Tuesday, 07 January 2025

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Editor

Here are a few examples of how you can use the search feature:

Entering this and that into the search form will return results containing both "this" and "that".

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Assuming fg is required, and syndrome is required, the following 6 results were found.

  1. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...

    • Type: Article
    • Author: Editor
    • Category: Home

  2. Opitz-Kaveggia Syndrome (OKS)https://cnke.org/articles/361

    laxity evolving into joint contractures. Hyperactivity and talkativeness are common. History Initially described as 'FG syndrome' by Opitz and Kaveggia in 1974, using the initials of patients' surnames. Genetic Heterogeneity Different forms of 'FG...

    • Type: Article
    • Author: Editor
    • Category: Home

  3. Speech and Language developmental disordershttps://cnke.org/articles/243

    Definition and Components of Language and Speech Language: A communication system acquired through use, involving symbols sequenced to share attention and ideas. Speech: One mechanism for expressing language, but other methods like gestures, sign...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  4. FG Syndromehttps://cnke.org/topics/fg-syndrome

    • Type: Tag
    • Author: Editor

  5. MED12L Variant and Its Role in Human Diseasehttps://cnke.org/articles/360

    MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly conserved across eukaryotes and contains 43 exons. The protein encoded by MED12L is a component of the Mediator...

    • Type: Article
    • Author: Editor
    • Category: Home

  6. Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214

    Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 1 - 6 of 6