Результати пошуку - Khan, Naz

Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality за авторством Gasteiger, Norina, Vercell, Amy, Davies, Alan, Dowding, Dawn, Khan, Naz, Davies, Angela

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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy за авторством Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H., Burke, Katherine B., Khan, Naz, Chandler, Kate E., Cooper, Nicola S., Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth

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Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations за авторством Madhu, Rajesh, Beaman, Glenda M., Chandler, Kate E., O'Sullivan, James, Urquhart, Jill E., Khan, Naz, Martindale, Elizabeth, Briggs, Tracy A., Clayton-Smith, Jill, Higgs, Jenny, Batra, Gauri, Kerr, Bronwyn, Woolf, Adrian S., Newman, William G.

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Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient за авторством Raffan, Eleanor, Hurst, Liam A., Turki, Saeed Al, Carpenter, Gillian, Scott, Carol, Daly, Allan, Coffey, Alison, Bhaskar, Sanjeev, Howard, Eleanor, Khan, Naz, Kingston, Helen, Palotie, Aarno, Savage, David B., O'Driscoll, Mark, Smith, Claire, O'Rahilly, Stephen, Barroso, Inês, Semple, Robert K.

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance за авторством Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance за авторством Burkitt Wright, Emma M.M., Spencer, Helen L., Daly, Sarah B., Manson, Forbes D.C., Zeef, Leo A.H., Urquhart, Jill, Zoppi, Nicoletta, Bonshek, Richard, Tosounidis, Ioannis, Mohan, Meyyammai, Madden, Colm, Dodds, Annabel, Chandler, Kate E., Banka, Siddharth, Au, Leon, Clayton-Smith, Jill, Khan, Naz, Biesecker, Leslie G., Wilson, Meredith, Rohrbach, Marianne, Colombi, Marina, Giunta, Cecilia, Black, Graeme C.M.

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome за авторством Pottie, Lore, Adamo, Christin S., Beyens, Aude, Lütke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie, Maroofian, Reza, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Altweijri, Ikhlass, Alsaleh, Monerah, Abdullah, Sawsan Mohamed, Al-Owain, Mohammad, Hashem, Mais, Houlden, Henry, Alkuraya, Fowzan S., Sips, Patrick, Sengle, Gerhard, Callewaert, Bert

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome за авторством Pottie, Lore, Adamo, Christin S., Beyens, Aude, Lütke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie, Maroofian, Reza, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Altweijri, Ikhlass, Alsaleh, Monerah, Abdullah, Sawsan Mohamed, Al-Owain, Mohammad, Hashem, Mais, Houlden, Henry, Alkuraya, Fowzan S., Sips, Patrick, Sengle, Gerhard, Callewaert, Bert

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