检索结果 - Laura Russell
- Showing 1 - 13 results of 13
-
1
Axial mesodermal dysplasia spectrum 由 Laura Russell, David D. Weaver, Marilyn J. Bull
出版 2020Artigo -
2
-
3
-
4
-
5
-
6
-
7
-
8
Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome 由 Gabriele Richard, Fatima Rouan, Colin E. Willoughby, Nkecha Brown, Pil Joong Chung, Markku Ryynänen, Ethylin Wang Jabs, Sherri J. Bale, John J. DiGiovanna, Jouni Uitto, Laura Russell
出版 2002Artigo -
9
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth 由 Nicole Revençu, Laurence M. Boon, A. Dompmartin, Paul N.M.A. Rieu, W Busch, Josée Dubois, Francesca Forzano, Johanna M. van Hagen, Sara Halbach, A. Kuechler, A.M.A. Lachmeijer, Jyrki Lähde, Laura Russell, K. O. J. Simola, John B. Mulliken, Miikka Vikkula
出版 2013Artigo -
10
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth 由 Johanna M. Huusko, Minna K. Karjalainen, Britney E. Graham, Ge Zhang, Emily Farrow, Neil Miller, Bo Jacobsson, Haley Eidem, Jeffrey C. Murray, Bruce Bedell, Patrick Breheny, Noah Brown, Frans Bodker, Nadia K. Litterman, Panpan Jiang, Laura Russell, David A. Hinds, Youna Hu, Antonis Rokas, Kari Teramo, Kaare Christensen, Scott M. Williams, Mika Rämet, Stephen F. Kingsmore, Kelli K. Ryckman, Mikko Hallman, Louis J. Muglia
出版 2018Artigo -
11
A Clinical Program for Transgender and Gender-Diverse Neurodiverse/Autistic Adolescents Developed through Community-Based Participatory Design 由 John F. Strang, Megan Knauss, Anna I. R. van der Miesen, Jenifer K. McGuire, Lauren Kenworthy, Reid Caplan, Andrew J. Freeman, Eleonora Sadikova, Zosia Zaks, Noor Pervez, Anouk Balleur, D. W. Rowlands, Ely Sibarium, Laura Willing, Marissa A. McCool, Randall D. Ehrbar, Shannon E. Wyss, Harriette Wimms, Joshua H. L. Tobing, J. Graham Thomas, Julie Austen, Elyse Pine-Twaddell, April Dawn Griffin, Aron Janssen, Veronica Gómez-Lobo, Abigail Brandt, Colleen Morgan, Haley Meagher, Dena Gohari, Laura Kirby, Laura Russell, Meredith D. Powers, Laura G. Anthony
出版 2020Artigo -
12
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth 由 Ge Zhang, Bjarke Feenstra, Jonas Bacelis, Xueping Liu, Lisa M. Muglia, Julius Juodakis, Daniel E. Miller, Nadia K. Litterman, Panpan Jiang, Laura Russell, David A. Hinds, Youna Hu, Matthew T. Weirauch, Xiaoting Chen, Arun R. Chavan, Günter P. Wagner, Mihaela Pavličev, Mauris C. Nnamani, Jamie Maziarz, Minna K. Karjalainen, Mika Rämet, Verena Sengpiel, Frank Geller, Heather A. Boyd, Aarno Palotie, Allison M. Momany, Bruce Bedell, Kelli K. Ryckman, Johanna M. Huusko, Carmy Forney, Leah C. Kottyan, Mikko Hallman, Kari Teramo, Ellen A. Nøhr, George Davey Smith, Mads Melbye, Bo Jacobsson, Louis J. Muglia
出版 2017Artigo -
13
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 由 Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen
出版 2017Artigo
相关主题
Medicine
Biology
Gene
Genetics
Mutation
Internal medicine
Pathology
Chemistry
Endocrinology
Anatomy
Biochemistry
Bioinformatics
Computational biology
Dysplasia
Genotype
Hormone
Melatonin
Missense mutation
Pars tuberalis
Phenotype
Pituitary gland
Acoustics
Allele
Anthropology
Arteriovenous malformation
Audiology
Autism
Biomedical engineering
Botany
Broad spectrum