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1دورية أكاديمية
المؤلفون: Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
مصطلحات موضوعية: amniocentesis, aneuploidy, chromosomal microarray, genomics, prenatal testing, products of conception, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
المؤلفون: Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Marco L. Leung, Elaine R. Mardis, Peter White, Murugu Manickam, Richard K. Wilson, Daniel C. Koboldt
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: leigh syndrome, HtrA2, mitochondrial disease, trio-whole exome sequencing, compound heterozygous, MGCA8, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Jeremy Miller, Charles Griswold, Nikolaj Scharff, Milan Rezac, Tamas Szuts, Mohammad Marhabaie
المصدر: ZooKeys, Vol 195, Iss 0, Pp 1-144 (2012)
وصف الملف: electronic resource
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المؤلفون: Jesse M, Hunter, Lauren J, Massingham, Kandamurugu, Manickam, Dennis, Bartholomew, Rachel K, Williamson, Jennifer L, Schwab, Mohammad, Marhabaie, Amy, Siemon, Emily, de Los Reyes, Shalini C, Reshmi, Catherine E, Cottrell, Richard K, Wilson, Daniel C, Koboldt
المصدر: Cold Spring Harbor molecular case studies. 8(2)
مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Developmental Disabilities, Intellectual Disability, Exome Sequencing, Humans, Muscle Hypotonia, Syndrome, Protein Serine-Threonine Kinases, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fae545a2ae655c26ee5dac0f36a60c5a
https://pubmed.ncbi.nlm.nih.gov/35091509 -
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المؤلفون: Mohammad, Marhabaie, Scott E, Hickey, Katherine, Miller, Olivia, Grischow, Kathleen M, Schieffer, Samuel J, Franklin, David M, Gordon, Samantha, Choi, Theresa, Mihalic Mosher, Peter, White, Daniel C, Koboldt, Richard K, Wilson
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, Mosaicism, Spermine Synthase, defect in the atrial septum, Mental Retardation, X-Linked, Mutation, Missense, Humans, Infant, congenital hypothyroidism, hyperinsulinemic hypoglycemia, severe muscular hypotonia, bilateral sensorineural hearing impairment, Rapid Communication
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9730cca7b180db210ee1c48e83ecb519
https://pubmed.ncbi.nlm.nih.gov/34667072 -
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المؤلفون: Jesse M Hunter, Lauren J Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K Williamson, Jennifer L Schwab, Mohammad Marhabaie, Amy Siemon, Emily de los Reyes, Shalini C Reshmi, Catherine E Cottrell, Richard K Wilson, Daniel C Koboldt
المصدر: Molecular Case Studies. :mcs.a006180
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5d068eb1e7f0f2fd1f00aeb01cea41ab
https://doi.org/10.1101/mcs.a006180 -
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المؤلفون: Peter White, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Mohammad Marhabaie, Samuel J Franklin, Samantha Choi, Kathleen M. Schieffer, Olivia Grischow, David M Gordon, Katherine E. Miller, Richard K. Wilson
المصدر: Molecular Case Studies. 7:a006122
مصطلحات موضوعية: Proband, Sanger sequencing, Genetics, biology, General Medicine, medicine.disease_cause, Hypotonia, symbols.namesake, Spermine synthase, biology.protein, symbols, medicine, Missense mutation, medicine.symptom, Hyperinsulinemic hypoglycemia, Gene, Allele frequency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b62a9ae8e61993d4a5988651d122be7e
https://doi.org/10.1101/mcs.a006122 -
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المؤلفون: Robert A. Haney, Saranshu Singla, Ali Dhinojwala, Mohammad Marhabaie, K Zin Htut, Ingi Agnarsson, Matjaž Kuntner, Jessica E. Garb, Angela M. Alicea-Serrano, Todd A. Blackledge, Matjaž Gregorič
المصدر: J R Soc Interface
مصطلحات موضوعية: Darwin's bark spider, Toughness, Silk, Biomedical Engineering, Biophysics, Bioengineering, Biochemistry, Protein Structure, Secondary, Biomaterials, Tensile Strength, Ultimate tensile strength, Animals, Spider silk, Protein secondary structure, Life Sciences–Engineering interface, Spider, biology, Polymer science, Chemistry, technology, industry, and agriculture, Spiders, biology.organism_classification, SILK, Plant Bark, MASP1, Biotechnology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3c47f640b96e529223b32f2b8324fe
https://doi.org/10.1098/rsif.2021.0320 -
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المؤلفون: Todd A. Blackledge, Mohammad Marhabaie, Thomas C. Leeper
المصدر: Biomacromolecules. 15(1)
مصطلحات موضوعية: Polymers and Plastics, Population, Silk, Zoology, Bioengineering, macromolecular substances, Biology, complex mixtures, Biomaterials, Tensile Strength, Materials Chemistry, Animals, Spider silk, education, Chemical composition, chemistry.chemical_classification, education.field_of_study, Spider, Ecology, fungi, technology, industry, and agriculture, Spiders, biology.organism_classification, Amino acid, Biomechanical Phenomena, SILK, chemistry, Female, Fibroins, MASP1, Argiope trifasciata