Hasil Pencarian - Emma L. Baple

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  1. 1
    Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved]

    Misannotation of multiple-nucleotide variants risks misdiagnosis [version 2; peer review: 2 approved] oleh Matthew N. Wakeling, Thomas W. Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L. Baple

    Diterbitkan 2020-01-01
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  2. 2
    Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics

    Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics oleh Khushboo Borah, Olivia J. Rickman, Nikol Voutsina, Emma L. Baple, Irundika HK Dias, Andrew H. Crosby, Helen R. Griffiths

    Diterbitkan 2020-12-01
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  3. 3
    CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

    CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago oleh Yan Ma, Xun Wang, Xun Wang, Nadav Shoshany, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Gregory Ku, Emma L. Baple, Emma L. Baple, James Fasham, James Fasham, Raheela Nadeem, Muhammad Asif Naeem, Sheikh Riazuddin, Sheikh Riazuddin, S. Amer Riazuddin, Andrew H. Crosby, J. Fielding Hejtmancik

    Diterbitkan 2022-03-01
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  4. 4
    Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

    Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families oleh Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul

    Diterbitkan 2019-08-01
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  5. 5
    A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism

    A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism oleh Khushboo Borah, Olivia J. Rickman, Nikol Voutsina, Isaac Ampong, Dan Gao, Emma L. Baple, Irundika HK. Dias, Andrew H. Crosby, Helen R. Griffiths

    Diterbitkan 2020-09-01
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  6. 6
    Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder

    Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder oleh Joan Sala-Gaston, Eva M. Pérez-Villegas, José A. Armengol, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Francesc Ventura, Jose Luis Rosa

    Diterbitkan 2024-04-01
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  7. 7
    Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

    Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature oleh Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

    Diterbitkan 2018-09-01
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  8. 8
    Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

    Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report oleh Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby, Barry A. Chioza

    Diterbitkan 2018-02-01
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  9. 9
    Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan

    Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan oleh Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Nikol Voutsina, Arfa Azeem, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

    Diterbitkan 2024-10-01
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  10. 10
    Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

    Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families oleh Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul

    Diterbitkan 2019-12-01
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  11. 11
    No association between SCN9A and monogenic human epilepsy disorders.

    No association between SCN9A and monogenic human epilepsy disorders. oleh James Fasham, Joseph S Leslie, Jamie W Harrison, James Deline, Katie B Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E Cross, Andrew H Crosby, Emma L Baple

    Diterbitkan 2020-11-01
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  12. 12
    Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families

    Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families oleh Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha

    Diterbitkan 2024-09-01
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  13. 13
    Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families

    Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families oleh Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha

    Diterbitkan 2023-05-01
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  14. 14
    Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families

    Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families oleh Jahangir Khan, Saaim Asif, Shamsul Ghani, Hamid Khan, Muhammad Waqar Arshad, Shujaat Ali khan, Siying Lin, Emma L. Baple, Claire Salter, Andrew H. Crosby, Lettie Rawlins, Muhammad Imran Shabbir

    Diterbitkan 2024-08-01
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  15. 15
    Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

    Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia oleh Reham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, David J. Evans, Joseph S. Leslie, Thomas T. Warner, Fida’ Al-Hijawi, Shurouq Alshaer, Wisam Baker, Peter D. Turnpenny, Emma L. Baple, Andrew H. Crosby

    Diterbitkan 2021-05-01
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  16. 16
    A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

    A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report oleh Masoud DEHGHAN TEZERJANI, Reza MAROOFIAN, Mohammad Yahya VAHIDI MEHRJARDI, Barry A. CHIOZA, Shiva ZAMANINEJAD, Seyed Mehdi KALANTAR, Mahmoud NORI-SHADKAM, Hamidreza GHADIMI, Emma L. BAPLE, Andrew H. CROSBY, Mohammadreza DEHGHANI

    Diterbitkan 2016-10-01
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  17. 17
    Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

    Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families oleh Muhammad Dawood, Siying Lin, Taj Ud Din, Irfan Ullah Shah, Niamat Khan, Abid Jan, Muhammad Marwan, Komal Sultan, Maha Nowshid, Raheel Tahir, Asif Naveed Ahmed, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

    Diterbitkan 2021-12-01
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  18. 18
    A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

    A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping oleh Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self

    Diterbitkan 2019-09-01
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  19. 19
    Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

    Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences oleh Michelle Peter, Michelle Peter, Rhiannon Mellis, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Wing Han Wu, Lyn S. Chitty, Lyn S. Chitty, Melissa Hill, Melissa Hill

    Diterbitkan 2024-06-01
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  20. 20
    A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

    A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. oleh Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby

    Diterbitkan 2021-09-01
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