Mina Zamani

9PUBLICATIONS
67CO-AUTHORS
Developmental genetics (incl. sex determination)Gene mappingNeurogeneticsGenome structure and regulationNeurology and neuromuscular diseases
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Publications (9)

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

|Mar 08, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Shelby E Redfield, Pedro De-la-Torre, Mina Zamani

|Feb 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Lucia Laugwitz, Fubo Cheng, Stephan C Collins

|Dec 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf

|Oct 24, 2023
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.

Shelby E Redfield, Pedro De-la-Torre, Mina Zamani

|Sep 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari

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