Zoekresultaten - Emma L. Baple

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

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

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

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

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

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