Ngā hua rapu - Murray Feingold
- E whakaatu ana i te 1 - 10 hua o te 10
-
1
-
2
Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations mā William A. Paznekas, Michael L. Cunningham, Timothy D. Howard, Bruce R. Korf, Mark Lipson, Art Grix, Murray Feingold, Rosalie Goldberg, Zvi Borochowitz, Kirk Aleck, John B. Mulliken, Mingfei Yin, Ethylin Wang Jabs
I whakaputaina 1998Artigo -
3
Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome mā Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, Louise Brueton, Jean‐Pierre Fryns, Douglas P. Mortlock, Jeffrey W. Innis, Lewis B. Holmes, Alan E. Donnenfeld, Murray Feingold, Frits A. Beemer, Raoul C. M. Hennekam, Peter Scambler
I whakaputaina 2000Artigo -
4
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype mā Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Murray Feingold, Pamela Brock, Gordon C. Gowans, Pradeep Vasudevan, Lara Cresswell, Emma‐Jane Taylor, Civonnia Harris, Neil Friedman, Rocio Moran, Holly Feret, Elaine H. Zackai, Aaron Theisen, Jill A. Rosenfeld, Michael Parker
I whakaputaina 2011Artigo -
5
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects mā Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung
I whakaputaina 2016Artigo -
6
Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis mā Sandra Hanks, Sarah Adams, Jenny Douglas, Laura Arbour, David J. Atherton, Sevim Balcı, Harald Bode, Mary Ellen Campbell, Murray Feingold, Gökhan Keser, Wim J. Kleijer, Grazia M.S. Mancini, John A. McGrath, Francesco Muntoni, Arti Nanda, M. Dawn Teare, Matthew L. Warman, F. Michael Pope, Andrea Superti‐Furga, P. Andrew Futreal, Nazneen Rahman
I whakaputaina 2003Artigo -
7
Mutations in the pre-replication complex cause Meier-Gorlin syndrome mā Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim Aftimos, Jumana Y. Al‐Aama, Michael B. Bober, Paul A. Brown, Hans van Bokhoven, John Dean, Alaa Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine Knoers, J. M. MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright, Andrew P. Jackson
I whakaputaina 2011Artigo -
8
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis mā Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers
I whakaputaina 2012Artigo -
9
Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder mā Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers
I whakaputaina 2012Artigo -
10
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP mā Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott
I whakaputaina 2013Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Medicine
Phenotype
Endocrinology
Internal medicine
Mutation
Short stature
Anatomy
Missense mutation
Pathology
Biochemistry
Bioinformatics
Cohort
Compound heterozygosity
Control of chromosome duplication
DNA replication
DNA replication factor CDT1
Dwarfism
Enzyme
Epidemiology
Etiology
Eukaryotic DNA replication
Exome sequencing
Exon
Fibroblast growth factor
Fibroblast growth factor receptor
Gene expression
Genetic heterogeneity