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المؤلفون: Katerina Harwood, Patricia Vuguin, Joan DiMartino-Nardi
المصدر: Hormone Research in Paediatrics. 68:209-217
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Article, Diagnostic Techniques, Endocrine, Anovulation, Endocrinology, Insulin resistance, Sex hormone-binding globulin, Internal medicine, medicine, Humans, hirsutism, biology, business.industry, Insulin, Hyperandrogenism, medicine.disease, Polycystic ovary, Pediatrics, Perinatology and Child Health, biology.protein, Female, business, Hyperinsulinism, Polycystic Ovary Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e55da935896d68cc658313f01d8df3b4Test
https://doi.org/10.1159/000101538Test -
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المؤلفون: Stephanie N. DuBose, Julia M. Hermann, William V. Tamborlane, Roy W. Beck, Axel Dost, Linda A. DiMeglio, Karl Otfried Schwab, Reinhard W. Holl, Sabine E. Hofer, David M. Maahs, Steven Willi, Terri Lipman, Tammy Calvano, Olena Kucheruk, Pantea Minnock, Chau Nguyen, Georgeanna Klingensmith, Carolyn Banion, Jennifer Barker, Cindy Cain, Peter Chase, Sandy Hoops, Megan Kelsy, David Maahs, Cathy Mowry, Kristen Nadeau, Jennifer Raymond, Marian Rewers, Arleta Rewers, Robert Slover, Andrea Steck, Paul Wadwa, Philippe Walravens, Philip Zeitler, Heidi Haro, Katherine Manseau, Ruth Weinstock, Roberto Izquierdo, Umair Sheikh, Patricia Conboy, Jane Bulger, Suzan Bzdick, Robin Goland, Rachelle Gandica, Lindsay Weiner, Steve Cook, Ellen Greenberg, Kevin Kohm, Sarah Pollack, Joyce Lee, Brigid Gregg, Meng Tan, Kimberly Burgh, Ashley Eason, Satish Garg, Aaron Michels, Lisa Myers, Linda DiMeglio, Tamara Hannon, Donald Orr, Christy Cruz, Stephanie Woerner, Joseph Wolfsdorf, Maryanne Quinn, Olivia Tawa, Andrew Ahmann, Jessica Castle, Farahnaz Joarder, Chris Bogan, Nancy Cady, Jennifer Cox, Amy Pitts, Rebecca Fitch, Brad White, Bethany Wollam, Bruce Bode, Katie Lindmark, RaShonda Hosey, Kathleen Bethin, Teresa Quattrin, Michelle Ecker, Jamie Wood, Lily Chao, Clement Cheung, Lynda Fisher, Debra Jeandron, Francine Kaufman, Mimi Kim, Brian Miyazaki, Roshanak Monzavi, Payal Patel, Pisit Pitukcheewanont, Anna Sandstrom, Marisa Cohen, Brian Ichihara, Megan Lipton, Ayse Cemeroglu, Yaw Appiagyei-Dankah, Maala Daniel, Daniel Postellon, Michael Racine, Michael Wood, Lora Kleis, Irl Hirsch, Anthony DeSantis, D.C. Dugdale, R. Alan Failor, Lisa Gilliam, Carla Greenbaum, Mary Janci, Peggy Odegard, Dace Trence, Brent Wisse, Emily Batts, Angela Dove, Deborah Hefty, Dori Khakpour, Jani Klein, Kristen Kuhns, Marli McCulloch-Olson, Christina Peterson, Mary Ramey, Marissa St. Marie, Pam Thomson, Christine Webber, David Liljenquist, Mark Sulik, Carl Vance, Tiffany Coughenour, Chris Brown, Jean Halford, Andrea Prudent, Shanda Rigby, Brandon Robison, Harold Starkman, Tymara Berry, Barbara Cerame, Daisy Chin, Laurie Ebner-Lyon, Frances Guevarra, Kristen Sabanosh, Lawrence Silverman, Christine Wagner, Marie Fox, Bruce Buckingham, Avni Shah, Kimberly Caswell, Breanne Harris, Richard Bergenstal, Amy Criego, Greg Damberg, Glenn Matfin, Margaret Powers, David Tridgell, Cassie Burt, Beth Olson, LeeAnn Thomas, Sanjeev Mehta, Michelle Katz, Lori Laffel, Joanne Hathway, Roxanne Phillips, Eda Cengiz, William Tamborlane, Darryll Cappiello, Amy Steffen, Melinda Zgorski, Anne Peters, Valerie Ruelas, Robert Benjamin, Deanna Adkins, Juanita Cuffee, Amber Spruill, Grazia Aleppo-Kacmarek, Teresa Derby, Elaine Massaro, Kimberly Webb, Christine Burt Solorzano, Mark DeBoer, Helen Madison, Janet McGill, Lori Buechler, Mary Jane Clifton, Stacy Hurst, Sarah Kissel, Carol Recklein, Eva Tsalikian, Michael Tansey, Joanne Cabbage, Julie Coffey, Sarah Salamati, Mark Clements, Sripriya Raman, Angela Turpin, Jennifer Bedard, Cyndy Cohoon, Aliza Elrod, Amanda Fridlington, Lois Hester, Davida Kruger, Desmond Schatz, Michael Clare-Salzler, Kenneth Cusi, Colleen Digman, Becky Fudge, Mike Haller, Collette Meehan, Henry Rohrs, Janet Silverstein, Sujata Wagh, Miriam Cintron, Eleni Sheehan, Jamie Thomas, Mark Daniels, Susan Clark, Timothy Flannery, Nikta Forghani, Ajanta Naidu, Christina Reh, Peggy Scoggin, Lien Trinh, Natalie Ayala, Rebeca Quintana, Heather Speer, William Zipf, Diane Seiple, Julie Kittelsrud, Ashutosh Gupta, Vikki Peterson, Ashley Stoker, Michael Gottschalk, Marla Hashiguchi, Katheryn Smith, Henry Rodriguez, Craig Bobik, Danielle Henson, Jill Simmons, Amy Potter, Margo Black, Faith Brendle, Rose Gubitosi-Klug, Beth Kaminski, Susan Bergant, Wendy Campbell, Catherine Tasi, Kenneth Copeland, Joni Beck, Joane Less, Jill Schanuel, Jennifer Tolbert, Saleh Adi, Andrea Gerard-Gonzalez, Stephen Gitelman, Nassim Chettout, Christine Torok, Catherine Pihoker, Joyce Yi-Frazier, Susan Kearns, Ingrid Libman, Vicky Bills, Ana Diaz, Julie Duke, Brandon Nathan, Antoinette Moran, Melena Bellin, Shannon Beasley, Anne Kogler, Janice Leschyshyn, Kara Schmid, Anne Street, Bryce Nelson, Carrie Frost, Erin Reifeis, Morey Haymond, Fida Bacha, Maria Caldas-Vasquez, Sara Klinepeter, Maria Redondo, Rosa Berlanga, Teresa Falk, Elizabeth Garnes, Janette Gonzalez, Cecilia Martinez, Mariam Pontifes, Ronald Yulatic, Kathleen Arnold, Traci Evans, Sharon Sellers, Vandana Raman, Carol Foster, Mary Murray, Trina Brown, Hillarie Slater, Karen Wheeler, David Harlan, Mary Lee, John-Paul Lock, Celia Hartigan, Lisa Hubacz, John Buse, Ali Calikoglu, Joseph Largay, Laura Young, Helen Brown, Vinnie Duncan, Michelle Duclos, Julie Tricome, Verdayne Brandenburg, Julie Blehm, Julie Hallanger-Johnson, Dawn Hanson, Corliss Miller, Jennifer Weiss, Robert Hoffman, Monika Chaudhari, David Repaske, Elizabeth Gilson, Jesse Haines, Justen Rudolph, Charles McClave, Doris Biersdorf, Anthony Tello, Donna Amundson, Rhonda Ward, Michael Rickels, Cornelia Dalton-Bakes, Eileen Markman, Amy Peleckis, Nora Rosenfeld, Lawrence Dolan, Sarah Corathers, Jessica Kichler, Holly Baugh, Debbie Standiford, Jeanne Hassing, Jennifer Jones, Stephen Willis, Carol Wysham, Lisa Davis, Scott Blackman, Kimber-Lee Abel, Loretta Clark, Andrea Jonas, Ellie Kagan, Jay Sosenko, Carlos Blashke, Della Matheson, Rachel Edelen, Thomas Repas, Denise Baldwin, Trista Borgwardt, Christina Conroy, Kelly DeGrote, Rod Marchiando, Michelle Wasson, Larry Fox, Nelly Mauras, Ligeia Damaso, Kim Englert, Marwan Hamaty, Laurence Kennedy, Michelle Schweiger, Pantelis Konstantinopoulos, Carolyn Mawhorter, Amy Orasko, Denise Rose, Larry Deeb, Kim Rohrbacher, Leroy Schroeder, Amanda Roark, Omar Ali, Joanna Kramer, Donna Whitson-Jones, Heidi Gassner, Sobha Kollipara, Katerina Harwood, Vijaya Prasad, Judy Brault
المصدر: The Journal of pediatrics. 167(3)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, endocrine system diseases, Adolescent, MEDLINE, Hypoglycemia, Body Mass Index, Diabetes mellitus, Germany, medicine, Humans, Obesity, Registries, Child, Glycemic, Glycated Hemoglobin, Type 1 diabetes, business.industry, nutritional and metabolic diseases, medicine.disease, Institutional review board, United States, Diabetes Mellitus, Type 1, Austria, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Body mass index, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc354953efae46164270b4ea9bd82e1fTest
https://pubmed.ncbi.nlm.nih.gov/26164381Test -
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المؤلفون: Murray Feingold, Ivan F M Lo, Francesco Brancati, Kate Pope, Beate Albrecht, Chong Ae Kim, Stephanie Moortgat, Katerina Harwood, Greta Gillies, Anne Slavotinek, Verónica Mericq, Jane A. Hurst, Didier Lacombe, Estevan Luiz da Silveira, Meghan Connolly, Judith Allanson, Ernie M.H.F. Bongers, Marleen Simon, Susan M. White, Paolo Balestri, Usha Kini, Anne Destree, Han G. Brunner, Alexandra Afenjar, James D. Weisfeld-Adams, Sarina G. Kant, Bert B.A. de Vries, Francesca Forzano, Neeti Ghali, Alessandra Renieri, Nine V A M Knoers, Claire M Jacob, Kym M. Boycott, Andrew Dauber, Joaquim Sá, Ineke van der Burgt, Jennifer Ibrahim, Dagmar Wierczorek, Chung Lee, Sanne Traasdahl Møller, Jeroen Schoots, Delphine Héron, Francesca Mari, Jukka S. Moilanen, Małgorzata J.M. Nowaczyk, Dennis E. Bulman, Oana Caluseriu, Connie Fung On Yee, Tawfeg Ben-Omran, Louisa A Delaney, Sonja A. de Munnik, Isabel Cordeiro, Margo L. Whiteford, Alexander Hoischen, Luiza Silveira Lucas, Bruna Santos da Cunha, Chandree L. Beaulieu, Rebecca L. Hood, Yvonne M C Hendriks, David R. FitzPatrick, Susan Price, Engela Honey, Edwin P. Kirk, Sarah M. Nikkel, Jan M. Wit, Daniela T. Pilz, I. Karen Temple, Lies H. Hoefsloot
المساهمون: Clinical Genetics, Research & Education, Human genetics, Other Research
المصدر: Orphanet Journal of Rare Diseases, 8. BioMed Central Ltd.
Orphanet journal of rare diseases, 8:63. BMC
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; et al.(2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8(1), 63. doi: http://dx.doi.org/10.1186/1750-1172-8-63Test. Retrieved from: http://www.escholarship.org/uc/item/6r91w5r2Test
Orphanet Journal of Rare Diseases
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J M, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M C, Heron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V A M, Lacombe, D, Lee, C, Lo, I F M, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Moller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, E L, Simon, M E H, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B A, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F O, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet Journal of Rare Diseases, vol. 8, 63 . https://doi.org/10.1186/1750-1172-8-63Test
Orphanet Journal of Rare Diseases, 8:63. BioMed Central
Orphanet Journal of Rare Diseases, 8
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destrée, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M, Héron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V, Lacombe, D, Lee, C, Lo, I F, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Møller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, Sá, J, Schoots, J, Silveira, E L, Simon, M E, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of floating-harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet journal of rare diseases, vol. 8, no. 1, pp. 63 . https://doi.org/10.1186/1750-1172-8-63Testمصطلحات موضوعية: Heart Septal Defects, Ventricular, Male, Pediatrics, Craniofacial abnormality, Medizin, medicine.disease_cause, Ventricular/genetics, Craniofacial Abnormalities, Exon, Floating Harbor syndrome, Phenotype, Short stature, SRCAP, Abnormalities, Multiple, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Exons, Female, Growth Disorders, Humans, Middle Aged, Mutation, Young Adult, 0302 clinical medicine, Abnormalities, Multiple/genetics, Exons/genetics, Medicine, Genetics(clinical), Pharmacology (medical), Young adult, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, Adenosine Triphosphatases/genetics, General Medicine, Multiple/genetics, medicine.symptom, Abnormalities, Multiple, medicine.medical_specialty, Craniofacial Abnormalities/genetics, Heart Septal Defects, Ventricular/genetics, 03 medical and health sciences, Preschool, 030304 developmental biology, business.industry, Research, Heart Septal Defects, Ventricular, Growth Disorders/genetics, medicine.disease, Human genetics, Floating–Harbor syndrome, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8020c2947f5f65e481e8e6f61976743bTest
https://research.rug.nl/en/publications/1c6f03b4-d419-4e98-a16e-4ec7fceeaa41Test