نتائج البحث - Ishida, Miho

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

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Analysis of CDKN1C in fetal growth restriction and pregnancy loss حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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