Paternal somatogonadalCOL2A1mosaicism causing recurrence of severe type 2 collagenopathy von Morrison, Patrick J., Znaczko, Anna, Jansson, Mattias

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Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy von Morrison, Patrick J., Znaczko, Anna, Jansson, Mattias

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Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population von Znaczko, Anna, Donnelly, Deirdre E., Morrison, Patrick J.

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Study of an extended 4-generation family with A143T Fabry mutation: Presentation of variable phenotypes including very mildly affected individuals von Stewart, Fiona, Znaczko, Anna, Wilson, Alison

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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BIRTH RATE MAY INCREASE NINE MONTHS AFTER NATIONAL FOOTBALL SUCCESS von McKenna, Caoimhe S., Znaczko, Anna, Morrison, Patrick J.

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K, Dabir, Tabib, Morrison, Patrick J, Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw-Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E, Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E, Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman-Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander JM, Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D, Genomics England Research Consortium, Becker, Esther BE, Németh, Andrea H

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