المؤلفون: Keppers, Rachel, McCarthy Veach, Patricia, Schema, Lynn, LeRoy, Bonnie S., MacFarlane, Ian M.

المصدر: Journal of Genetic Counseling; Apr2022, Vol. 31 Issue 2, p398-410, 13p

المؤلفون: Aggarwal, Anjali, Pillai, Nishitha R., Billington, Charles J., Schema, Lynn, Berry, Susan A.

المصدر: American Journal of Medical Genetics. Part A; Apr2022, Vol. 188 Issue 4, p1239-1244, 6p

المؤلفون: Kashmola‐Perez, Iman, McCarthy Veach, Patricia, Schema, Lynn, Redlinger‐Grosse, Krista

المصدر: Journal of Genetic Counseling; Dec2021, Vol. 30 Issue 6, p1598-1612, 15p

المؤلفون: Langenfeld, Adam¹ (AUTHOR) lang0650@umn.edu, Schema, Lynn² (AUTHOR), Eckerle, Judith K.³ (AUTHOR)

المصدر: Journal of Medical Case Reports. 1/25/2021, Vol. 15 Issue 1, p1-5. 5p.

مصطلحات موضوعية: *DEVELOPMENTAL disabilities, *MEDICAL personnel, *DEVELOPMENTAL delay, *ADULTS, *CONGENITAL heart disease, *22Q11 deletion syndrome, *STRABISMUS

المؤلفون: Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J., Hull, Sarah, Lane, Amelia, Robson, Anthony G., Wenger, Olivia, Self, Jay E., Harlalka, Gaurav V., Salter, Claire G., Schema, Lynn, Moss, Timothy J., Cheetham, Michael E., Moore, Anthony T., Raymond, F. Lucy, Chen, Rui, Baple, Emma L., Webster, Andrew R.

المصدر: American Journal of Medical Genetics. Part A; Aug2019, Vol. 179 Issue 8, p1665-1671, 7p

المؤلفون: Schema, Lynn, McLaughlin, Michaela, Veach, Patricia, LeRoy, Bonnie

المصدر: Journal of Genetic Counseling; Oct2015, Vol. 24 Issue 5, p717-731, 15p

المؤلفون: McPherson, Elizabeth, Cold, Christopher, Johnson, Peter, Schema, Lynn, Zaleski, Christina

المصدر: American Journal of Medical Genetics. Part A; Jan2015, Vol. 167A Issue 1, p246-249, 4p

المؤلفون: Swenson, Erica, Schema, Lynn, McPherson, Elizabeth

المصدر: American Journal of Medical Genetics. Part A; Sep2014, Vol. 164A Issue 9, p2270-2275, 6p

المؤلفون: Pillai, Nishitha (AUTHOR), Aggarwal, Anjali (AUTHOR), Schema, Lynn (AUTHOR), Billington Jr., Charles (AUTHOR), Berry, Susan (AUTHOR)

المصدر: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS27-S28. 2p.

مصطلحات موضوعية: *MITOCHONDRIA, *MUSCLE diseases

المؤلفون: Guissart, Claire¹, Latypova, Xenia^2,3,4, Rollier, Paul⁵, Khan, Tahir N.³, Stamberger, Hannah^6,7,8, McWalter, Kirsty⁹, Cho, Megan T.⁹, Kjaergaard, Susanne¹⁰, Weckhuysen, Sarah^6,7,8, Lesca, Gaetan^11,12, Besnard, Thomas^2,4, Õunap, Katrin¹³, Schema, Lynn¹⁴, Chiocchetti, Andreas G.¹⁵, McDonald, Marie¹⁶, de Bellescize, Julitta¹⁷, Vincent, Marie^2,4, Van Esch, Hilde¹⁸, Sattler, Shannon¹⁹, Forghani, Irman²⁰

المصدر: American Journal of Human Genetics. May2018, Vol. 102 Issue 5, p744-759. 16p.

مصطلحات موضوعية: *DELETION mutation, *INTELLECTUAL disabilities, *CEREBELLAR ataxia, *NEURODEGENERATION, *NUCLEAR receptors (Biochemistry), *PHENOTYPES, *AUTISM, *GENETICS