نتائج البحث - Rodger Palmer
- يعرض 1 - 6 نتائج من 6
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1
Increased Transactivation Associated with<i>SOX</i>3 Polyalanine Tract Deletion in a Patient with Hypopituitarism حسب Kyriaki S. Alatzoglou, Daniel Kelberman, Christopher T. Cowell, Rodger Palmer, Ivo J.P. Arnhold, Maria Edna de Melo, Dirk Schnabel, Annette Grueters, Mehul Dattani
منشور في 2011Artigo -
2
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis حسب Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, C. R. Boustred, Jane A. Hurst, Lucy Jenkins, Manju A. Kurian, Richard H. Scott
منشور في 2016Artigo -
3
Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism حسب Kathryn Woods‐Townsend, Maria Cundall, James Turton, Karine Rizotti, Ameeta Mehta, Rodger Palmer, J. T. Wong, W.K. Chong, Mahmoud Alzyoud, Maryam El-Ali, Timo Otonkoski, Juan Pedro Martı́nez-Barberá, Quentin Thomas, Chris Robinson, Robin Lovell‐Badge, J. Karen Woodward, T. Mehul Dattani
منشور في 2005Artigo -
4
Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS حسب Veronica A. Kinsler, Anna Thomas, Miho Ishida, Neil Bulstrode, Sam Loughlin, Sandra Hing, Jane Chalker, Kathryn J. McKenzie, Sayeda Abu‐Amero, Olga Slater, Estelle Chanudet, Rodger Palmer, Deborah Morrogh, Philip Stanier, Eugene Healy, Neil J. Sebire, Gudrun E. Moore
منشور في 2013Artigo -
5
SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development حسب Daniel Kelberman, Sandra C. de Castro, Shuwen Huang, John A. Crolla, Rodger Palmer, John W. Gregory, David Taylor, Luciano Cavallo, Maria Felicia Faienza, Rita Fischetto, John C. Achermann, Juan Pedro Martı́nez-Barberá, Karine Rizzoti, Robin Lovell‐Badge, Iain C. A. F. Robinson, Dianne Gerrelli, Mehul Dattani
منشور في 2008Artigo -
6
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome حسب Christopher T. Gordon, Alice Vuillot, Sandrine Marlin, Erica H. Gerkes, Alex Henderson, Adila Al‐Kindy, Muriel Holder‐Espinasse, Sarah Park, Asma Omarjee, Mateo Sanchis-Borja, Eya Ben Bdira, Myriam Oufadem, Birgit Sikkema‐Raddatz, A. Stewart, Rodger Palmer, Ruth McGowan, Florence Petit, Bruno Delobel, Michael R. Speicher, Paul Aurora, David Kilner, P. Pellerin, Marie Simon, Jean‐Paul Bonnefont, Edward S. Tobias, Sixto García‐Miñaúr, Maria Bitner‐Glindzicz, Pernille Lindholm, Brigitte A. Meijer, Véronique Abadie, Françoise Denoyelle, Marie-Paule Vazquez, C Rotky-Fast, V. Couloigner, S. Pierrot, Y Manac'h, Sylvain Breton, Yvonne Hendriks, Arnold Münnich, Linda P. Jakobsen, Peter M. Kroisel, Angela E. Lin, Leonard B. Kaban, Lina Basel‐Vanagaite, Louise C. Wilson, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel
منشور في 2013Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Medicine
Mutation
Hypopituitarism
Internal medicine
Missense mutation
Phenotype
Endocrinology
Exon
Transcription factor
Allele
Anophthalmia
Bioinformatics
Cancer research
Copy-number variation
Epilepsy
Exome sequencing
Gene duplication
Genome
Haploinsufficiency
Hormone
Hypogonadotropic hypogonadism
Hypoplasia
KRAS
Loss of heterozygosity
Mathematics
Melanoma
Microphthalmia