Khushnooda Ramzan

5PUBLICATIONS
9CO-AUTHORS
OtorhinolaryngologyGene mappingEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (5)

|May 08, 2021
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

Aziza M Mushiba, Eissa Faqeih, Mohammed A Saleh

|Apr 29, 2021
Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.

Alia M Albalawi, Jamil A Hashmi, Fatima Alfadhli

|Dec 15, 2020
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.

Khushnooda Ramzan, Nouf S Al-Numair, Sarah Al-Ageel

|Dec 20, 2019
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.

Khushnooda Ramzan, Mohammed Al-Owain, Nouf S Al-Numair

|Jan 16, 2019
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Salma M Wakil, Dorota Monies, Samya Hagos

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