The syndrome of ring chromosome 12 von Scribanu, Nina, McCullars, Eva B., Baumiller, Robert C., Colon, Angel R., Kaye, Celia J.

Volltext

Multi-method analysis of MRI images in early diagnostics of Alzheimer's disease von Wolz, Robin, Julkunen, Valtteri, Koikkalainen, Juha, Niskanen, Eini, Zhang, Dong Ping, Rueckert, Daniel, Soininen, Hilkka, Lötjönen, Jyrki

Volltext

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease von Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J. A., Watson, Hunna J., Liu, Zijing, Brueggeman, Leo, Breen, Gerome, Bulik, Cynthia M., Arenas, Ernest, Hjerling-Leffler, Jens, Sullivan, Patrick F.

Volltext

Update of Newborn Screening and Therapy for Congenital Hypothyroidism von American Academy of Pediatrics, Rose, Susan R, and Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown, Rosalind S, and Public Health Committee, Lawson Wilkins Pediatric Endocrine Society

Volltext

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group von Teutsch, Steven M., Bradley, Linda A., Palomaki, Glenn E., Haddow, James E., Piper, Margaret, Calonge, Ned, Dotson, W. David, Douglas, Michael P., Berg, Alfred O.

Volltext

Outcomes of interest in evidence-based evaluations of genetic tests von Botkin, Jeffrey R., Teutsch, Steven M., Kaye, Celia I., Hayes, Maxine, Haddow, James E., Bradley, Linda A., Szegda, Kathleen, Dotson, W. David

Volltext

Newborn Screening Fact Sheets von Kaye, Celia I, and Committee on Genetics

Volltext

Introduction to the Newborn Screening Fact Sheets von Kaye, Celia I, Committee on Genetics

Volltext

Phylogenetic analyses reveal HIV-1 infections between men misclassified as heterosexual transmissions von HUE, Stéphane, BROWN, Alison E, LEIGH BROWN, Andrew J, RAGONNET-CRONIN, Manon, LYCETT, Samantha J, DUNN, David T, FEARNHILL, Esther, DOLLING, David I, POZNIAK, Anton, PILLAY, Deenan, DELPECH, Valerie C

Volltext

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting von Bellcross, Cecelia A., Bedrosian, Sara R., Daniels, Elvan, Duquette, Debra, Hampel, Heather, Jasperson, Kory, Joseph, Djenaba A., Kaye, Celia, Lubin, Ira, Meyer, Laurence J., Reyes, Michele, Scheuner, Maren T., Schully, Sheri D., Senter, Leigha, Stewart, Sherri L., St. Pierre, Jeanette, Westman, Judith, Wise, Paul, Yang, Vincent W., Khoury, Muin J.

Volltext

The contribution of viral genotype to plasma viral set-point in HIV infection von Hodcroft, Emma, Hadfield, Jarrod D, Fearnhill, Esther, Phillips, Andrew, Dunn, David, O'Shea, Siobhan, Pillay, Deenan, Leigh Brown, Andrew J

Volltext

A framework for assessing outcomes from newborn screening: on the road to measuring its promise von Hinton, Cynthia F., Homer, Charles J., Thompson, Alexis A., Williams, Andrea, Hassell, Kathryn L., Feuchtbaum, Lisa, Berry, Susan A., Comeau, Anne Marie, Therrell, Bradford L., Brower, Amy, Harris, Katharine B., Brown, Christine, Monaco, Jana, Ostrander, Robert J., Zuckerman, Alan E., Kaye, Celia, Dougherty, Denise, Greene, Carol, Green, Nancy S.

Volltext

The EGAPP initiative: lessons learned von Calonge, Ned, Klein, Roger D, Berg, Alfred O, Berg, Jonathan S, Armstrong, Katrina, Botkin, Jeffrey, Campos-Outcalt, Doug, Djulbegovic, Benjamin, Fisher, Nancy L, Ganiats, Theodore G, Haddow, James E, Hayes, Maxine, Janssens, A Cecile JW, Kaye, Celia, Lyman, Donald O, Offit, Kenneth, Pauker, Stephen G, Phillips, Kathryn A, Piper, Margaret, Richards, Carolyn Sue, Scott, Joan A, Strickland, Ora L, Teutsch, Steven, Tunis, Sean R, Veenstra, David L, Williams, Marc S, Zallen, Doris T

Volltext

Health Supervision for Children With Turner Syndrome von Frias, Jaime L, Davenport, Marsha L, Committee on Genetics, Section on Endocrinology

Volltext

Health Supervision for Children With Down Syndrome von Cunniff, Christopher, Frias, Jaime L, Kaye, Celia, Moeschler, John B

Volltext

Health Care Supervision for Children With Williams Syndrome von Cunniff, Christopher, Frias, Jaime L, Kaye, Celia I, Moeschler, John

Volltext

What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disord... von Hinton, Cynthia F, Feuchtbaum, Lisa, Kus, Christopher A, Kemper, Alex R, Berry, Susan A, Levy-Fisch, Jill, Luedtke, Julie, Kaye, Celia, Boyle, Coleen A

Volltext

Novel HIV-1 recombinants spreading across multiple risk groups in the United Kingdom: the identification and phylogeography of Circulating Recombinant Form (CRF) 50_A1D von Foster, Geraldine M, Ambrose, John C, Hué, Stéphane, Delpech, Valerie C, Fearnhill, Esther, Abecasis, Ana B, Leigh Brown, Andrew J, Geretti, Anna Maria

Volltext

Intercontinental dispersal of HIV-1 subtype B associated with transmission among men who have sex with men in Japan von Takebe, Yutaka, Naito, Yuki, Raghwani, Jayna, Fearnhill, Esther, Sano, Takako, Kusagawa, Shigeru, Mbisa, Jean L, Zhang, Hongyi, Matano, Tetsuro, Brown, Andrew J Leigh, Pybus, Oliver G, Dunn, David, Kondo, Makiko

Volltext

Increased brain serotonin turnover in panic disorder patients in the absence of a panic attack: Reduction by a selective serotonin reuptake inhibitor von Esler, Murray, Lambert, Elisabeth, Alvarenga, Marlies, Socratous, Florentia, Richards, Jeff, Barton, David, Pier, Ciaran, Brenchley, Celia, Dawood, Tye, Hastings, Jacqueline, Guo, Ling, Haikerwal, Deepak, Kaye, David, Jennings, Garry, Kalff, Victor, Kelly, Michael, Wiesner, Glen, Lambert, Gavin

Volltext