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Emma L Baple

Showing results (31-40 of 93) with videos related to

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BMC Ophthalmology|May 10, 2023
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous familiesMuhammad Marwan, Muhammad Dawood, Mukhtar Ullah, et al.
BMC Ophthalmology|August 14, 2024
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani familiesJahangir Khan, Saaim Asif, Shamsul Ghani, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Iranian Journal of Public Health|December 14, 2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case ReportMasoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, et al.
Annals of Human Genetics|June 8, 2019
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from PakistanShazia Khan, Siying Lin, Gaurav V Harlalka, et al.
Brain Sciences|June 2, 2021
Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic ParaplegiaReham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, et al.
Eye (London, England)|April 19, 2019
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani familiesMuhammad Shakil, Gaurav V Harlalka, Shamshad Ali, et al.
Frontiers in Genetics|April 8, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years AgoYan Ma, Xun Wang, Nadav Shoshany, et al.
BMC Medical Genetics|November 12, 2015
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsThomas Iype, Vafa Alakbarzade, Mary Iype, et al.
European Journal of Human Genetics : EJHG|May 20, 2021
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiencySiying Lin, James Fasham, Fida' Al-Hijawi, et al.
Pageof 10

Showing results (31-40 of 93) with videos related to

Sort By:
Pageof 10
BMC Ophthalmology|May 10, 2023
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous familiesMuhammad Marwan, Muhammad Dawood, Mukhtar Ullah, et al.
BMC Ophthalmology|August 14, 2024
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani familiesJahangir Khan, Saaim Asif, Shamsul Ghani, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Iranian Journal of Public Health|December 14, 2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case ReportMasoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, et al.
Annals of Human Genetics|June 8, 2019
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from PakistanShazia Khan, Siying Lin, Gaurav V Harlalka, et al.
Brain Sciences|June 2, 2021
Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic ParaplegiaReham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, et al.
Eye (London, England)|April 19, 2019
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani familiesMuhammad Shakil, Gaurav V Harlalka, Shamshad Ali, et al.
Frontiers in Genetics|April 8, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years AgoYan Ma, Xun Wang, Nadav Shoshany, et al.
BMC Medical Genetics|November 12, 2015
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsThomas Iype, Vafa Alakbarzade, Mary Iype, et al.
European Journal of Human Genetics : EJHG|May 20, 2021
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiencySiying Lin, James Fasham, Fida' Al-Hijawi, et al.
Pageof 10