Хайлтын үр дүнгүүд - Ishida, Miho

New developments in Silver–Russell syndrome and implications for clinical practice -н Ishida, Miho

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Analysis of CDKN1C in fetal growth restriction and pregnancy loss -н Suntharalingham, Jenifer P., Ishida, Miho, Buonocore, Federica, del Valle, Ignacio, Solanky, Nita, Demetriou, Charalambos, Regan, Lesley, Moore, Gudrun E., Achermann, John C.

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Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight -н Ishida, Miho, Monk, David, Duncan, Andrew J., Abu-Amero, Sayeda, Chong, Jiehan, Ring, Susan M., Pembrey, Marcus E., Hindmarsh, Peter C., Whittaker, John C., Stanier, Philip, Moore, Gudrun E.

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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood -н Lokulo-Sodipe, Oluwakemi, Ballard, Lisa, Child, Jenny, Inskip, Hazel M, Byrne, Christopher D, Ishida, Miho, Moore, Gudrun E, Wakeling, Emma L, Fenwick, Angela, Mackay, Deborah J G, Davies, Justin Huw, Temple, I Karen

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Paternally Expressed, Imprinted Insulin-Like Growth Factor-2 in Chorionic Villi Correlates Significantly with Birth Weight -н Demetriou, Charalambos, Abu-Amero, Sayeda, Thomas, Anna C., Ishida, Miho, Aggarwal, Reena, Al-Olabi, Lara, Leon, Lydia J., Stafford, Jaime L., Syngelaki, Argyro, Peebles, Donald, Nicolaides, Kypros H., Regan, Lesley, Stanier, Philip, Moore, Gudrun E.

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Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS -н Kinsler, Veronica A, Thomas, Anna C, Ishida, Miho, Bulstrode, Neil W, Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J, Moore, Gudrun E

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Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity -н Cottrell, Emily, Cabrera, Claudia P, Ishida, Miho, Chatterjee, Sumana, Greening, James, Wright, Neil, Bossowski, Artur, Dunkel, Leo, Deeb, Asma, Basiri, Iman Al, Rose, Stephen J, Mason, Avril, Bint, Susan, Ahn, Joo Wook, Hwa, Vivian, Metherell, Louise A, Moore, Gudrun E, Storr, Helen L

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The role and interaction of imprinted genes in human fetal growth -н Moore, Gudrun E., Ishida, Miho, Demetriou, Charalambos, Al-Olabi, Lara, Leon, Lydia J., Thomas, Anna C., Abu-Amero, Sayeda, Frost, Jennifer M., Stafford, Jaime L., Chaoqun, Yao, Duncan, Andrew J., Baigel, Rachel, Brimioulle, Marina, Iglesias-Platas, Isabel, Apostolidou, Sophia, Aggarwal, Reena, Whittaker, John C., Syngelaki, Argyro, Nicolaides, Kypros H., Regan, Lesley, Monk, David, Stanier, Philip

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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice -н Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.

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Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations -н Bryant, Dale, Seda, Marian, Peskett, Emma, Maurer, Constance, Pomeranz, Gideon, Ghosh, Marcus, Hawkins, Thomas A., Cleak, James, Datta, Sanchari, Hariri, Hanaa, Eckert, Kaitlyn M., Jafree, Daniyal J., Walsh, Claire, Demetriou, Charalambos, Ishida, Miho, Alemán-Charlet, Cristina, Vestito, Letizia, Seselgyte, Rimante, McDonald, Jeffrey G., Bitner-Glindzicz, Maria, Hemberger, Myriam, Rihel, Jason, Teboul, Lydia, Henne, W. Mike, Jenkins, Dagan, Moore, Gudrun E., Stanier, Philip

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Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency -н McGlacken-Byrne, Sinéad M., Del Valle, Ignacio, Quesne Stabej, Polona Le, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A., Ishida, Miho, Suntharalingham, Jenifer P., Gagunashvili, Andrey, Ogunbiyi, Olumide K., Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E., Dattani, Mehul T., Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F., Livera, Gabriel, Conway, Gerard S., Achermann, John C.

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Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate -н Mangold, Elisabeth, Böhmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gültepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Gölz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Gül, Jäger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Nöthen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba, Stanier, Philip, Knapp, Michael, Ludwig, Kerstin U.

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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome -н Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip

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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome -н Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip

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