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1دورية أكاديمية
المؤلفون: Mari Mori, April Lehman, Mackenzie Marr, Rebecca Youngs, Kandamurugu Manickam
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100902- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anisha Verma, April Lehman, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100049- (2023)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Mariane Tomiyoshi Asato, April Lehman, Kara Pappas, Andrea Wilhelm
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100358- (2023)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Caleb P. Bupp, Elizabeth G. Ames, Madison K. Arenchild, Sara Caylor, David P. Dimmock, Joseph D. Fakhoury, Padmani Karna, April Lehman, Cristian I. Meghea, Vinod Misra, Danielle A. Nolan, Jessica O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer-Monaghan
المصدر: Children, Vol 10, Iss 1, p 106 (2023)
مصطلحات موضوعية: rapid whole genome sequencing, genetics, genomics, pediatrics, hospital medicine, medical technology and advancement, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, Sharon Linard, Edwin Ferren, Nicole Ducich, Kirkland Wilson, April Lehman, Lori‐Anne Schillaci, Kandamurugu Manickam, Mari Mori, Dennis Bartholomew, Suzanne DeBrosse, Bruce Cohen, Sumit Parikh, Douglas Kerr
المصدر: JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
مصطلحات موضوعية: alanine, ketogenic amino acids, ketogenic diet, lactic acidosis, mitochondrial disorder, newborn screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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6
المؤلفون: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
المساهمون: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Anomalies cromosòmiques, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES]
وصف الملف: application/pdf
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7
المؤلفون: M. Laura Duque Lasio, Angela C. Leshinski, Nicole H. Ducich, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B. Jayakar, Bryan E. Hainline, Alice A. Basinger, William G. Wilson, George A. Diaz, Richard W. Erbe, Dwight D. Koeberl, Jerry Vockley, Jirair K. Bedoyan
المصدر: Molecular Genetics and Metabolism. 139:107605
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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8
المؤلفون: April Lehman, Anisha Verma, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan
المصدر: Molecular Genetics and Metabolism. 138:107443
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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9
المؤلفون: Stephanie L. Santoro, April Lehman, Mark A. Leach
المصدر: American journal of medical genetics. Part AREFERENCES. 185(12)
مصطلحات موضوعية: Adult, Chromosome Aberrations, Male, Parents, Down syndrome, medicine.medical_specialty, Fact sheet, Genetic counseling, Legislation, Genetic Counseling, medicine.disease, New diagnosis, Readability, Family medicine, Surveys and Questionnaires, Genetics, medicine, Humans, Female, Parental perception, Down Syndrome, Psychology, Child, Genetics (clinical), Ohio
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10
المؤلفون: Huachun Zhong, Natalie Bir, Patrick J. Brennan, Carly Grubbs, Jesse Hunter, Betsy Schmalz, Amy Siemon, Harkness Kuck, Richard K. Wilson, Eric Bosley, Austin Antoniou, Erin Crist, Emily Sites, Shannon Garner, Kandamurugu Manickam, April Lehman, Rachel Gosselin, Bimal Chaudhari, Aimee Jalkanen, Peter White, Aimee McKinney, Jenni Carroll, Shireen A. Woodiga, Benjamin J. Kelly, Scott E. Hickey, Kristy Lee, Kyle Voytovich, Samantha Choi, Elaine R. Mardis, Cortland Martin, Catherine E. Cottrell, Vijayakumar Jayaraman, Mari Mori, Adam Herman, Marco Leung, Valentina Caceres, Don Corsmeier, Gregory L. Wheeler, Bianca Zapanta, David Gordon, Grant E. Lammi, Samuel J Franklin, Vincent Magrini, Andrei Rajkovic, Sarah Savage, Ingrid Chen, Matthew J. Schultz, Dennis Bartholomew, Matthew Pastore, Joshua Brenneman, Kim L. McBride, Kristen V. Truxal, Daniel C. Koboldt
المصدر: Molecular Genetics and Metabolism. 132:S165-S166
مصطلحات موضوعية: Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Biology, Molecular Biology, Biochemistry, DNA sequencing