Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Fran Kendall"'
Autor:
Fran Kendall
Publikováno v:
Journal of Pediatric Biochemistry. :193-203
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c78f6e8dedf5a1ab59f26bb8dd8f1b3
https://doi.org/10.1055/s-0036-1586416
https://doi.org/10.1055/s-0036-1586416
Autor:
M.J. Guillen Sacoto, Kyle Retterer, Rashmi Chikarmane, Berivan Baskin, Barbara K. Burton, Emma Bedoukian, S Hopkins, Brooke E. Spangler, Heather M. McLaughlin, Wendy K. Chung, Fran Kendall, Matthew A. Deardorff, David Kronn, M. T. Cho, Marie T. McDonald, Rebecca Willaert, N Oundjian, D Stern, Ingrid M. Wentzensen, Anne Slavotinek, Dianalee McKnight, Allyn McConkie-Rosell, S Schrier Vergano, Katherine H. Kim, N Chandy
Publikováno v:
Clinical Genetics. 92:221-223
Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::581ee86a91c3e5561960d11be6b0ecf1
https://doi.org/10.1111/cge.12956
https://doi.org/10.1111/cge.12956
Autor:
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Frans P M Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K Chung, Dmitriy Niyazov, Juan M Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M Hisama, Bert B A de Vries, Christian Schaaf
This corrects the article DOI: 10.1038/gim.2016.18.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce80e9279e33ff8766892b1f0b7b9d5
https://openaccess.sgul.ac.uk/id/eprint/110124/1/Corrigendum_the_expanding_clinical_phenotype.docx
https://openaccess.sgul.ac.uk/id/eprint/110124/1/Corrigendum_the_expanding_clinical_phenotype.docx
Autor:
Kwame Anyane-Yeboa, Juan M. Pascual, Ganka Douglas, Kristin G. Monaghan, Fuki M. Hisama, Frans P.M. Cremers, Timothy J. Moss, Laurence E. Walsh, Marwan Shinawi, Jill A. Rosenfeld, Elfrida Malkin, Jane Juusola, Keri Ramsey, Parul Jayakar, Fran Kendall, John Mann, Wendy K. Chung, Daniëlle G.M. Bosch, Christian P. Schaaf, Cheri Schoonveld, Dianalee McKnight, Chun-An Chen, Bert B.A. de Vries, Dmitriy Niyazov, Katelyn Payne, F. Nienke Boonstra, Magdalena Walkiewicz, Megan T. Cho, Richard A. Lewis, Frances Elmslie, Vivekanand Veluchamy, Chumei Li, Gabriele Richard, Allison Schreiber, Francisca Millan
Publikováno v:
Genetics in Medicine, 18, 1143-1150
Genetics in Medicine, 18, 11, pp. 1143-1150
Genetics in Medicine, 18, 11, pp. 1143-1150
Item does not contain fulltext PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e809d4f125bcf94444c75853d031ad2d
http://hdl.handle.net/2066/168213
http://hdl.handle.net/2066/168213
Autor:
Kwame Anyane-Yeboa, Jane Juusola, Monica Nardini, Priyanka Ahimaz, Kyle Retterer, Fran Kendall, Mislen Bauer, Wendy K. Chung, Beverly N. Hay, Megan T. Cho, Renkui Bai, Akemi J. Tanaka, Ashley Wilson, Timothy J. Moss
Publikováno v:
Cold Spring Harbor Molecular Case Studies
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c65eb77d564a49a91b5af60dc20db6
http://europepmc.org/articles/PMC4850890
http://europepmc.org/articles/PMC4850890
Autor:
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse, David Dimmock, Marni J. Falk, Jaya Ganesh, Carol Greene, Andrea L. Gropman, Richard Haas, Stephen G. Kahler, John Kamholz, Fran Kendall, Mark S. Korson, Andre Mattman, Margherita Milone, Dmitriy Niyazov, Phillip L. Pearl, Tyler Reimschisel, Ramona Salvarinova-Zivkovic, Katherine Sims, Mark Tarnopolsky, Chang-Yong Tsao, Johan van Hove, Laurence Walsh, Lynne A. Wolfe
Publikováno v:
Mitochondrion. 13(6)
Mitochondrial medicine is a young subspecialty. Clinicians have limited evidence-based guidelines on which to formulate clinical decisions regarding diagnosis, treatment and management for patients with mitochondrial disorders. Mitochondrial medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0387a42ad100659e2ff467cba6f89fd8
https://pubmed.ncbi.nlm.nih.gov/24063850
https://pubmed.ncbi.nlm.nih.gov/24063850
Autor:
Abigail Collins, Andre Mattman, Marni J. Falk, Mark A. Tarnopolsky, David Dimmock, Phillip L. Pearl, Ramona Salvarinova-Zivkovic, Johan L.K. Van Hove, Russell P. Saneto, Suzanne D. DeBrosse, Sumit Parikh, John Kamholz, Andrea L. Gropman, Dmitriy Niyazov, Jaya Ganesh, Richard Haas, Irina Anselm, Katherine B. Sims, Laurence E. Walsh, Chang Yong Tsao, Stephen G. Kahler, Gregory M. Enns, Mark S. Korson, Fran Kendall, Amy Goldstein, Tyler Reimschisel, Bruce H. Cohen, Carol L. Greene, Lynne A. Wolfe, Margherita Milone, Fernando Scaglia, Mary Kay Koenig
Publikováno v:
Mitochondrion. 14(1)
Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an inform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ee2111211decb7f7d8a0e00e1fa4c5
https://pubmed.ncbi.nlm.nih.gov/23891656
https://pubmed.ncbi.nlm.nih.gov/23891656
Publikováno v:
Archives of Physical Medicine and Rehabilitation. 97:e136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a4bbe5251a5d3f03208992314c01b6a
https://doi.org/10.1016/j.apmr.2016.08.422
https://doi.org/10.1016/j.apmr.2016.08.422
Publikováno v:
Medicine & Science in Sports & Exercise. 48:746
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a0b9b8c46a5ba19ac9e745764963c16
https://doi.org/10.1249/01.mss.0000487240.04360.63
https://doi.org/10.1249/01.mss.0000487240.04360.63
Autor:
Elisabeth Tova, Bailey, Fran, Kendall
Publikováno v:
Academic medicine : journal of the Association of American Medical Colleges. 86(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a18bf930d59a3260c46b07e9c49d816c
https://pubmed.ncbi.nlm.nih.gov/21715996
https://pubmed.ncbi.nlm.nih.gov/21715996