Kamal Khan Selected Research

Grebe type Chondrodysplasia

7/2021

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

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Kamal Khan Research Topics

Disease

3	Neurodevelopmental Disorders 11/2019 - 01/2017
2	Intellectual Disability (Idiocy) 12/2021 - 02/2017
1	Seizures (Absence Seizure) 12/2021
1	Hearing Loss (Hearing Impairment) 12/2021
1	Primary Ovarian Insufficiency 12/2021
1	Brachydactyly type C 07/2021
1	Grebe type Chondrodysplasia 07/2021
1	Epilepsy (Aura) 01/2021
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 01/2021
1	Craniosynostoses (Craniosynostosis) 11/2020
1	Kallmann Syndrome (Kallmann's Syndrome) 11/2020
1	Renal Insufficiency (Renal Failure) 01/2020
1	Macular Degeneration (Age-Related Maculopathy) 01/2020
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2020
1	Optic Atrophy 01/2020
1	Neurocognitive Disorders (Clerambault Syndrome) 11/2019
1	Microcephaly 10/2017
1	Deafness (Deaf Mutism) 02/2017

Drug/Important Bio-Agent (IBA)

2	Mitochondrial DNA (mtDNA)IBA 12/2021 - 01/2020
2	Proteins (Proteins, Gene)FDA Link 01/2021 - 11/2019
2	Proteasome Endopeptidase Complex (Proteasome)IBA 02/2017 - 01/2017
1	Gonadal Steroid Hormones (Sex Hormones)IBA 12/2021
1	Growth Differentiation Factor 5IBA 07/2021
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2021
1	Immunoglobulin D (IgD)IBA 11/2020
1	Retinaldehyde (Retinal)IBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 11/2019
1	serum P-component (CIt)IBA 10/2017
1	ATP dependent 26S protease (26S proteasome)IBA 02/2017
1	Biological ProductsIBA 02/2017
1	Adenosine Triphosphatases (ATPase)IBA 02/2017

Therapy/Procedure

1	Transplantation 01/2020