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1دورية أكاديمية
المؤلفون: Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson
المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-9 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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2دورية أكاديمية
المؤلفون: Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan, Teresa A. Smolarek
المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Mitotic rescue, Unbalanced translocation, SNP microarray, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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3دورية أكاديمية
المؤلفون: Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Clinical exome sequencing, Copy-number variation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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4دورية أكاديمية
المصدر: Case Reports in Genetics, Vol 2013 (2013)
وصف الملف: electronic resource
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المؤلفون: Minjie Luo, Laura K Conlin, Ramakrishnan Rajagopalan
المصدر: Clinical Chemistry. 69:545-547
مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::949477a86505689a0ccb9b0192bf9942Test
https://doi.org/10.1093/clinchem/hvad044Test -
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المؤلفون: Laura K. Conlin, Erfan Aref‐Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan
المصدر: Human Mutation. 43:1531-1544
مصطلحات موضوعية: Genetics, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA, Pathology, Molecular, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01a2db3b28e47e5feca3571cab951ddTest
https://doi.org/10.1002/humu.24465Test -
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المؤلفون: Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
المصدر: The Journal of Molecular Diagnostics. 24:274-286
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d49583b2fd1c4436346a76a80fce3d8Test
https://doi.org/10.1016/j.jmoldx.2021.12.002Test -
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المؤلفون: Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45befTest
https://doi.org/10.1101/2022.09.21.22279949Test -
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المؤلفون: Petronel Tuluc, Pauline E. Schneeberger, Monica L. Fernández-Quintero, Jonas Denecke, Simone Pelizzari, Kerstin Kutsche, Cathy A. Stevens, Marta Campiglio, Richard E. Person, Yousra El Ghaleb, Stefan Rentas, Klaus R. Liedl, Eric D. Marsh, Stefanie M Geisler, Laura K. Conlin, Abeltje M. Polstra, Bernhard E. Flucher, Johanna M. van Hagen
المساهمون: Human Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Brain, 144(7), 2092-2106. Oxford University Press
El Ghaleb, Y, Schneeberger, P E, Fernández-Quintero, M L, Geisler, S M, Pelizzari, S, Polstra, A M, Van Hagen, J M, Denecke, J, Campiglio, M, Liedl, K R, Stevens, C A, Person, R E, Rentas, S, Marsh, E D, Conlin, L K, Tuluc, P, Kutsche, K & Flucher, B E 2021, ' CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders ', Brain, vol. 144, no. 7, pp. 2092-2106 . https://doi.org/10.1093/brain/awab101Test, https://doi.org/10.1093/brain/awab101Test
Brainمصطلحات موضوعية: Adult, Male, Models, Molecular, 0301 basic medicine, CaV3.3, Protein Conformation, Models, Neurological, Mutation, Missense, Gating, medicine.disease_cause, Ca 3.3, low-voltage-gated calcium channels, Mice, 03 medical and health sciences, Epilepsy, Bursting, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Animals, Humans, Computer Simulation, Genetic Predisposition to Disease, T-type calcium channels, intellectual disability (ID), Child, Neurons, Membrane potential, Mutation, Voltage-dependent calcium channel, AcademicSubjects/SCI01870, Chemistry, T-type calcium channel, Brain, Original Articles, Middle Aged, medicine.disease, Pedigree, Cell biology, 030104 developmental biology, Neurodevelopmental Disorders, Gain of Function Mutation, epilepsy, AcademicSubjects/MED00310, Female, Calcium Channels, Neurology (clinical), Ion Channel Gating, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bbb49e6049f2362f7ea16d06a8da98fTest
http://www.scopus.com/inward/record.url?scp=85102920109&partnerID=8YFLogxKTest -
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المؤلفون: Robert Chen, Maria Alejandra Diaz‐Miranda, Erfan Aref‐Eshghi, Tiffiney R. Hartman, Christopher Griffith, Jennifer L. Morrison, Patricia G. Wheeler, Erin Torti, Gabriele Richard, Margaret Kenna, Elizabeth T. Dechene, Nancy B. Spinner, Renkui Bai, Laura K. Conlin, Ian D. Krantz, Sami S. Amr, Minjie Luo
المصدر: Human mutationREFERENCES.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3e40d856ff7ca5195e476aed2fa497Test
https://pubmed.ncbi.nlm.nih.gov/35870179Test