Technical note: an economical apparatus for the observation and harvest of mineral precipitation experiments with light microscopy

by C. H. Crosby, J. V. Bailey
Published 2017-04-01

The role of microbes in the formation of modern and ancient phosphatic mineral deposits

by Chris H. Crosby, Jake eBailey
Published 2012-07-01

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

by Khushboo Borah, Olivia J. Rickman, Nikol Voutsina, Emma L. Baple, Irundika HK Dias, Andrew H. Crosby, Helen R. Griffiths
Published 2020-12-01

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

by Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul
Published 2019-08-01

A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism

by Khushboo Borah, Olivia J. Rickman, Nikol Voutsina, Isaac Ampong, Dan Gao, Emma L. Baple, Irundika HK. Dias, Andrew H. Crosby, Helen R. Griffiths
Published 2020-09-01

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

by Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Published 2018-09-01

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

by Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby, Barry A. Chioza
Published 2018-02-01

No association between SCN9A and monogenic human epilepsy disorders.

by 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
Published 2020-11-01

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

by 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
Published 2019-12-01

AESOPS: a randomised controlled trial of the clinical effectiveness and cost-effectiveness of opportunistic screening and stepped care interventions for older hazardous alcohol use...

by JM Watson, H Crosby, VM Dale, G Tober, Q Wu, J Lang, R McGovern, D Newbury-Birch, S Parrott, JM Bland, C Drummond, C Godfrey, E Kaner, S Coulton
Published 2013-06-01

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

by 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
Published 2016-10-01

Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

by 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
Published 2021-05-01

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

by 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
Published 2019-09-01

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

by Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Published 2017-01-01

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

by Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik
Published 2018-08-01