المؤلفون: Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100387- (2025)

مصطلحات موضوعية: MGA, clinical exome sequencing, candidate gene, gene discovery, congenital anomalies, neurodevelopmental disorder, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001271; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a3ad958ae5ee4a55936d83f8caf4555a

المؤلفون: Adrianna K. San Roman, Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi Teitz, Isani Singh, Laura V. Blanton, Daniel W. Bellott, Tatyana Pyntikova, Julian Lange, Natalia Koutseva, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Angela E. Lin, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page

المصدر: Cell Genomics, Vol 4, Iss 1, Pp 100462- (2024)

مصطلحات موضوعية: sex chromosomes, sex differences, X chromosome inactivation, aneuploidy, Turner syndrome, Klinefelter syndrome, Genetics, QH426-470, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666979X23003063; https://doaj.org/toc/2666-979X

URL الوصول: https://doaj.org/article/f7bcee4c14104a018d0e1ee125035ddd

المؤلفون: Alexandra Keefe, Dana Jensen, Renee Bend, Michelle Morrow, Paul Kruszka, Lauren O'Grady, Florian Eichler, Angela Sun, James Bennett

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100891- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000372; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/70807bdcb0cd471d9f4b544d8f6af6c4

المؤلفون: Kirsty McWalter, Ganka Douglas, Amanda Lindy, Jane Juusola, Paul Kruszka

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101046- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001924; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/48df3259114744dcb708e00c0320dd34

المؤلفون: Tara Wenger, Alexandra Keefe, Lukas Kruidenier, Megan Sikes, Abbey Scott, Joon-Ho Yu, Kate MacDuffie, Kailyn Anderson, Olivia Sommers, Heidi Gildersleeve, Kati Buckingham, Jessica Chong, Katrina Dipple, David Veenstra, Dan Doherty, Daniel Miller, Deborah Copenheaver, Jane Juusola, Amy Snook, Chayna Davis, Kirsty McWalter, Paul Kruszka, Michael Bamshad

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101091- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002371; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/5b3d3c7d724a4815ae5e3718a3d5d1fe

المؤلفون: Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101111- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002577; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/08838cdb18824bf08898bac6830472ef

المؤلفون: Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101189- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003352; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9

المؤلفون: Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101369- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005156; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/77189ae45b2c491f99280943989bfb4f

المؤلفون: Adrianna K. San Roman, Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris, Laura V. Blanton, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page

المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100259- (2023)

مصطلحات موضوعية: sex chromosomes, X chromosome inactivation, gene expression, sex differences, aneuploidy, turner syndrome, Genetics, QH426-470, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666979X23000150; https://doaj.org/toc/2666-979X

URL الوصول: https://doaj.org/article/a25725f53e0c4b88aad1b61692c510c9

المؤلفون: Andrea Cohen, Joel Hughes, Clifton Dalgard, Paul Kruszka, Emmanuele Delot, Vincent Fusaro, Eric Vilain, Maximilian Muenke, Seth Berger

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100177- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001772; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/a41fc4de120d4ae0905faf239b263aff

المؤلفون: Alexandra Keefe, Tara Wenger, Joon-Ho Yu, Megan Sikes, Luke Kruidenier, Abbey Scott, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, David Veenstra, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, Danny Miller, Katrina Dipple, Kyle Brothers, Michael Bamshad

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100236- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002364; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7928f999bf9c4dc587add75dcf74e0aa

المؤلفون: Tara Wenger, Alexandra Keefe, Megan Sikes, Luke Kruidenier, Joon-Ho Yu, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Abbey Scott, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, David Veenstra, Danny Miller, Katrina Dipple, Michael Bamshad

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100450- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423004508; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/2787b532517345a7bc4396185c6d8399

المؤلفون: Ganka Douglas, Jeanne Meck, Lindsay Havens Dyer, Rhonda Brandon, Lisa Dyer, Patricia Fernandez Ferri, Mingjuan Liao, Shuxi Liu, Ludmila Matyakhina, Evica Rajcan-Separovic, Laura Sack, May Sanyoura, Wei Wang, Paul Kruszka

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100500- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423005009; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/d954158160c74fa187360331d5abe6cb

المؤلفون: Yonit A. Addissie, Paul Kruszka, Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel, Robert J. Lipinski, Kristen M. C. Malecki, Maximilian Muenke

المصدر: Environmental Health, Vol 19, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Pesticides, Holoprosencephaly, Forebrain defect, Environmental exposure, Prenatal exposure, Industrial medicine. Industrial hygiene, RC963-969, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12940-020-00611-z; https://doaj.org/toc/1476-069X

URL الوصول: https://doaj.org/article/b860ee5ed34445d3aacaebfce021f2d1

المؤلفون: Byron W.H. Mui, Deepika Arora, Barbara S. Mallon, Ariel F. Martinez, Janice S. Lee, Maximilian Muenke, Paul Kruszka, Fahad K. Kidwai, Pamela G. Robey

المصدر: Stem Cell Research, Vol 46, Iss , Pp 101823- (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506120301252; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/8027fc1f67a0477cb6daae5cb212c9b1

المؤلفون: Fahad K. Kidwai, Byron W. H. Mui, Konstantinia Almpani, Priyam Jani, Cyrus Keyvanfar, Kulsum Iqbal, Sriram S. Paravastu, Deepika Arora, Pamela Orzechowski, Randall K. Merling, Barbara Mallon, Vamsee D. Myneni, Moaz Ahmad, Paul Kruszka, Maximilian Muenke, Jeremiah Woodcock, Jeffrey W. Gilman, Pamela G. Robey, Janice S. Lee

المصدر: Journal of Developmental Biology, Vol 9, Iss 4, p 39 (2021)

مصطلحات موضوعية: Muenke syndrome, human induced pluripotent stem cells, craniosynostosis, craniofacial abnormalities, geometric morphometric analysis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2221-3759/9/4/39; https://doaj.org/toc/2221-3759

URL الوصول: https://doaj.org/article/f1ce3cbb92f44d77abee4940f92d27f1

المؤلفون: Gravholt, Claus H, Andersen, Niels H, Christin-Maitre, Sophie, Davis, Shanlee M, Duijnhouwer, Anthonie, Gawlik, Aneta, Maciel-Guerra, Andrea T, Gutmark-Little, Iris, Fleischer, Kathrin, Hong, David, Klein, Karen O, Prakash, Siddharth K, Shankar, Roopa Kanakatti, Sandberg, David E, Sas, Theo C J, Skakkebæk, Anne, Stochholm, Kirstine, van der Velden, Janielle A, Backeljauw, Philippe F Co-authors : Francisco Alvarez-Nava, Hanna Bjorlin Avdic, Camilla M. Balle, Vaneeta Bamba, Ivonne Bedei, Åsa Bonnard, Wendy J. Brickman, Nicole M. Brown, Steven Chernausek, Jeremy Cobbold, Sarah D. Corathers, Christophe Corpechot, Melissa L. Crenshaw, Melanie Davies, Asma Deeb, Arianne Dessens, Tazim Dowlut-McElroy, Victoria Elliott, Doris Fadoju, Patricia Y. Fechner, Mitchell Geffner, Sarah Gitomer, Katya de Groote, Jacky Hewitt, Cindy Ho, Christa Hutaff-Lee, Tsuyoshi Isojima, Emma B. Johannsen, Masanobu Kawai, Ana Keselman, Rebecca Christine Knickmeyer, Jessica Kremen, Berit Kristrøm, Paul Kruszka, Jennifer Law, Angela E. Lin, Karen Loechner, Nelly Mauras, Deborah Matthews, Trine Mikkelborg, Kristian Havmand Mortensen, Leena Nahata, Mackenzie Norman44, Sheetal R. Patel45, Charmian Quigley46, Lukas O. Ridder4, Richard J. Santen, Nicole Sheanon, Arlene Smyth, Helen Turner, Franciska Verlinde, Mette Hansen Viuff, Malgorzata Wasniewska, Berber van der Weijde, Joachim Woelfle and Jeanne Wolstencroft.

المساهمون: Claus H, Gravholt, Niels H, Andersen, Sophie, Christin-Maitre, Shanlee M, Davi, Anthonie, Duijnhouwer, Aneta, Gawlik, Andrea T, Maciel-Guerra, Iris, Gutmark-Little, Kathrin, Fleischer, David, Hong, Karen O, Klein, Siddharth K, Prakash, Roopa Kanakatti, Shankar, David E, Sandberg, Theo C J, Sa, Anne, Skakkebæk, Kirstine, Stochholm, Janielle A, van der Velden, Backeljauw, Francisco Alvarez-Nava, Philippe F Co-author, Bjorlin Avdic, Hanna, Balle, Camilla M., Bamba, Vaneeta, Bedei, Ivonne, Bonnard, Åsa, Brickman, Wendy J., Brown, Nicole M., Chernausek, Steven, Cobbold, Jeremy, Corathers, Sarah D., Corpechot, Christophe, Crenshaw, Melissa L., Davies, Melanie, Deeb, Asma, Dessens, Arianne, Dowlut-McElroy, Tazim, Elliott, Victoria, Fadoju, Dori, Fechner, Patricia Y., Geffner, Mitchell, Gitomer, Sarah, de Groote, Katya, Hewitt, Jacky, Ho, Cindy, Hutaff-Lee, Christa, Isojima, Tsuyoshi, Johannsen, Emma B., Kawai, Masanobu, Keselman, Ana, Christine Knickmeyer, Rebecca, Kremen, Jessica, Kristrøm, Berit, Kruszka, Paul, Law, Jennifer, Lin, Angela E., Loechner, Karen, Mauras, Nelly, Matthews, Deborah, Mikkelborg, Trine, Havmand Mortensen, Kristian, Nahata, Leena, Norman44, Mackenzie, Patel45, Sheetal R., Quigley46, Charmian, Ridder4, Lukas O., Santen, Richard J., Sheanon, Nicole, Smyth, Arlene, Turner, Helen, Verlinde, Franciska, Hansen Viuff, Mette, Wasniewska, Malgorzata, van der Weijde, Berber, Wolstencroft., Joachim Woelfle and Jeanne

مصطلحات موضوعية: Turner syndrome, cardiovascular health, co-morbidity, hypogonadism, infertility, neurocognition, transition

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38748847; volume:190; issue:6; firstpage:53; lastpage:151; numberofpages:99; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; https://hdl.handle.net/11570/3300523

الاتاحة: https://hdl.handle.net/11570/3300523
https://doi.org/10.1093/ejendo/lvae050

المؤلفون: Andrew T. Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M. Wolfe, Amy L. Stiegler, Titus J. Boggon, May Sanyoura, Michelle Morrow, Tara L. Wenger, Erica M. Fernandes, Oana Caluseriu, John A. Persing, Sheng Chih Jin, Richard P. Lifton, Kristopher T. Kahle, Paul Kruszka

المصدر: The American Journal of Human Genetics. 110:846-862

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::88afd7996bcebbdc97470493c1cea232
https://doi.org/10.1016/j.ajhg.2023.03.017

المؤلفون: Ekanem N. Ekure, Ogochukwu Sokunbi, Paul Kruszka, Maximilian Muenke, Adebowale A. Adeyemo

المصدر: American Journal of Medical Genetics Part A. 191:271-274

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::78fcd905d40eab6e4f3f09caa376f308
https://doi.org/10.1002/ajmg.a.63013

المؤلفون: Maegan E. Roberts, Sarah Nimrichter, Megan L. Marshall, Elizabeth K. Flynn, Rick Person, Kathleen S. Hruska, Paul Kruszka, Jane Juusola

المصدر: American Journal of Medical Genetics Part A. 188:3121-3125

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6efd72a4783fd4999c1ab9b9dbf22bab
https://doi.org/10.1002/ajmg.a.62908