-
1Academic Journal
المؤلفون: Hanwen Zhu, Patricia Hixson, Wen Ma, Ji Sun
المصدر: Cell Discovery, Vol 10, Iss 1, Pp 1-12 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-5968
-
2Academic Journal
المؤلفون: Hanwen Zhu, Patricia Hixson, Wen Ma, Ji Sun
المصدر: Cell Discovery, Vol 10, Iss 1, Pp 1-1 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-5968
-
3
المؤلفون: Meiqin Jiang, Vivek Reddy Palicharla, Darcie Miller, Sun-Hee Hwang, Hanwen Zhu, Patricia Hixson, Saikat Mukhopadhyay, Ji Sun
المصدر: Cell Research. 33:288-298
مصطلحات موضوعية: Cell Biology, Molecular Biology
-
4
المؤلفون: Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Robert W Huff, Veronica Ortega, James R Lupski, Steven E Scherer, Rebecca Okashah Littlejohn, Gopalrao V N Velagaleti, Elizabeth R Roeder, Sau Wai Cheung
المصدر: Journal of medical genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
5
المؤلفون: Alexander G. Myasnikov, Junmin Peng, Boer Xie, Patricia Hixson, Kaiwen Yu, Aaron Pitre, Ji Sun, Hanwen Zhu
المصدر: Cell
مصطلحات موضوعية: Models, Molecular, Biology, medicine.disease_cause, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, General Biochemistry, Genetics and Molecular Biology, Protein Structure, Secondary, Article, Pathogenesis, 03 medical and health sciences, Membranous organelles, 0302 clinical medicine, Protein Domains, Microtubule, medicine, Humans, Amino Acid Sequence, 030304 developmental biology, 0303 health sciences, Mutation, Kinase, LRRK2, Cell biology, nervous system diseases, HEK293 Cells, Protein kinase domain, Protein Multimerization, 030217 neurology & neurosurgery
-
6
المؤلفون: Przemyslaw Szafranski, Ian M. Campbell, Michał Startek, Tomasz Gambin, Anna Gambin, Pawel Stankiewicz, Patricia Hixson, Chad A. Shaw
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Genetics, Comparative Genomic Hybridization, DNA Copy Number Variations, Genome, Human, Non-allelic homologous recombination, Retrotransposon, Genomics, Biology, Polymerase Chain Reaction, Genome, DNA sequencing, 3. Good health, Long interspersed nuclear element, Chromosome Breakpoints, Long Interspersed Nucleotide Elements, Humans, Human genome, Homologous Recombination, Algorithms, Comparative genomic hybridization
-
7
المؤلفون: Carlos A. Bacino, Janice L. Smith, Ping Fang, Pawel Stankiewicz, Patricia Hixson, William J. Craigen, Hans Georg O Bock, Ankita Patel, Przemyslaw Szafranski, Daniel Kinney, Sau Wai Cheung, Weimin Bi, Sailaja Golla, Reuben Matalon, Weihong Jin
المصدر: European Journal of Human Genetics. 23:915-921
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Developmental Disabilities, Molecular Sequence Data, Inheritance Patterns, CDKL5, Protein Serine-Threonine Kinases, Biology, Article, X-inactivation, Epilepsy, X Chromosome Inactivation, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Genetic Predisposition to Disease, Language Development Disorders, Megalencephaly, Autistic Disorder, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Comparative Genomic Hybridization, Base Sequence, Point mutation, Macrocephaly, Sequence Analysis, DNA, medicine.disease, Attention Deficit Disorder with Hyperactivity, Speech delay, Female, medicine.symptom
-
8
المؤلفون: Erin K. Roney, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Srirangan Sampath, Justin Pham, James R. Lupski, Weimin Bi, Tomasz Gambin, Patricia Hixson, Seema R. Lalani, Amber Pursley, Pawel Stankiewicz, Chad A. Shaw, Sung-Hae L. Kang
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, Adolescent, mosaic exon deletion, Isochromosome, CNV, Aneuploidy, Chromosomal translocation, Chromosome Disorders, Biology, Article, Cell Line, Young Adult, Gene duplication, Genetics, medicine, array CGH, Humans, Copy-number variation, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosome Aberrations, Comparative Genomic Hybridization, medicine.diagnostic_test, Mosaicism, Chromosome, Exons, medicine.disease, Molecular biology, somatic mosaicism, Child, Preschool, Mutation, Female, chromosomal structural abnormalities, Comparative genomic hybridization, Fluorescence in situ hybridization
-
9
المؤلفون: Lindsay C. Burrage, Erin K. Roney, Patricia Hixson, Sau Wai Cheung, Luis M. Franco, Tanya N. Eble
المصدر: American Journal of Medical Genetics Part A. 161:841-844
مصطلحات موضوعية: Male, Proteasome Endopeptidase Complex, Adolescent, Dwarfism, In situ hybridization, Biology, Short stature, Genome, Article, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Gene, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Adaptor Proteins, Signal Transducing, Comparative Genomic Hybridization, Mosaicism, medicine.disease, Phenotype, Chromosomes, Human, Pair 2, Trans-Activators, Chromosome Deletion, medicine.symptom, T-Box Domain Proteins, Comparative genomic hybridization
-
10
المؤلفون: Linda A. Baker, Pawel Stankiewicz, Patricia Hixson, Patricia Evans, Patricia I. Bader, Ayelet Erez, Ping Fang, Frank J. Probst, David L. Nelson, Sau Wai Cheung, Terry Bertin, Ankita Patel, Sandesh C.S. Nagamani
المصدر: neurogenetics. 13:333-339
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, Developmental Disabilities, Gene Dosage, Child Behavior Disorders, Biology, Gene dosage, Fragile X Mental Retardation Protein, Cellular and Molecular Neuroscience, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Gene silencing, Language Development Disorders, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Gene Rearrangement, Base Sequence, Gene rearrangement, medicine.disease, FMR1, Human genetics, nervous system diseases, Fragile X syndrome, Child, Preschool, Fragile X Syndrome, Female, Cognition Disorders, Gene Deletion
-
11
المؤلفون: Carlos A. Bacino, Amy M. Breman, Weimin Bi, Patricia A. Ward, Sau Wai Cheung, Ignatia B. Van den Veyver, Patricia Hixson, Ankita Patel, James R. Lupski, Chad A. Shaw, Amber N. Pursley, Arthur L. Beaudet
المصدر: Prenatal Diagnosis. 32:351-361
مصطلحات موضوعية: medicine.medical_specialty, Pathology, medicine.diagnostic_test, Obstetrics, Obstetrics and Gynecology, Chorionic villus sampling, Prenatal diagnosis, Biology, medicine, Amniocentesis, Clinical significance, Advanced maternal age, Copy-number variation, Family history, Genetics (clinical), Fluorescence in situ hybridization
-
12
المؤلفون: Beth A. Kozel, William J. Craigen, Ankita Patel, Katie Plunkett, Kristin Herman, Pawel Stankiewicz, Sau Wai Cheung, Ayelet Erez, Sandesh C.S. Nagamani, Małgorzata J.M. Nowaczyk, Monica Proud, Brett H. Graham, Anjana L. Pettigrew, Patricia Hixson, Seema R. Lalani, Carolyn Bay, Bobbi Hopkins
المصدر: European Journal of Human Genetics. 20:176-179
مصطلحات موضوعية: Male, Microcephaly, Adolescent, Biology, Article, AKT3, Gene Order, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), Comparative Genomic Hybridization, Chromosome Mapping, Infant, Chromosome, medicine.disease, CEP170, Hypoplasia, Chromosomes, Human, Pair 1, Child, Preschool, Agenesis, Female, Agenesis of Corpus Callosum, Chromosome Deletion, Comparative genomic hybridization
-
13
المصدر: Clinical Dysmorphology. 23:98-100
مصطلحات موضوعية: Male, Genetics, Heterozygote, business.industry, DNA Mutational Analysis, Infant, Dwarfism, Exons, General Medicine, Short stature, Receptor, IGF Type 1, Pathology and Forensic Medicine, Exon, Text mining, Pediatrics, Perinatology and Child Health, Humans, Medicine, Anatomy, medicine.symptom, business, Genetic Association Studies, Genetics (clinical), Sequence Deletion
-
14
المؤلفون: Changyun Xiong, Patricia Hixson, Leonardo H. Mendoza, C. Wayne Smith
المصدر: Veterinary Immunology and Immunopathology. 107:131-141
مصطلحات موضوعية: DNA, Complementary, Recombinant Fusion Proteins, Molecular Sequence Data, Immunology, Gene Expression, In Vitro Techniques, Biology, law.invention, Species Specificity, law, Sequence Homology, Nucleic Acid, Complementary DNA, Gene expression, Animals, Humans, Tissue Distribution, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Interleukin-15, chemistry.chemical_classification, Base Sequence, Sequence Homology, Amino Acid, General Veterinary, Nucleic acid sequence, Molecular biology, Reverse transcriptase, Amino acid, Blot, Open reading frame, chemistry, Recombinant DNA, Rabbits
-
15
المؤلفون: Ankita Patel, Ian M. Campbell, Pawel Stankiewicz, Patricia Hixson, Anna Gambin, Piotr Dittwald, Tomasz Gambin, Jill A. Rosenfeld, Chad A. Shaw, Christine R. Beck, Andrey Shuvarikov
المصدر: BMC Biology
مصطلحات موضوعية: Genome instability, DNA Copy Number Variations, Physiology, viruses, Molecular Sequence Data, Non-allelic homologous recombination, Plant Science, Biology, Genome, Genomic Instability, General Biochemistry, Genetics and Molecular Biology, Chromosome Breakpoints, chemistry.chemical_compound, Structural Biology, Humans, Copy-number variation, Homologous Recombination, Ecology, Evolution, Behavior and Systematics, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Genetics, Agricultural and Biological Sciences(all), Base Sequence, Biochemistry, Genetics and Molecular Biology(all), Genome, Human, Endogenous Retroviruses, copy number variation, Palindrome, Cell Biology, non-allelic homologous recombination, genome instability, chemistry, DNA, Viral, HERV, Human genome, General Agricultural and Biological Sciences, Homologous recombination, DNA, Research Article, Developmental Biology, Biotechnology
-
16Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
المؤلفون: Chad A. Shaw, Ian M. Campbell, James R. Lupski, Philip M. Boone, Sau Wai Cheung, Zachry T. Soens, Pawel Stankiewicz, Seema R. Lalani, Arthur L. Beaudet, Weimin Bi, Patricia Hixson, Ankita Patel, Brett C. Baggett, Mitchell Rao
مصطلحات موضوعية: genetic structures, DNA Copy Number Variations, education, Genes, Recessive, Biology, Compound heterozygosity, Test cross, Gene Frequency, Databases, Genetic, Genetics, Humans, Allele, Allele frequency, Gene, Genetics (clinical), Alleles, Genes, Dominant, Comparative Genomic Hybridization, Genetic carrier, Research, Homozygote, Genetic Diseases, Inborn, Phenotype, eye diseases, sense organs, human activities, Gene Deletion, Comparative genomic hybridization
-
17
المؤلفون: Jill A. Rosenfeld, Kay K. Win, Jeffery Kerr, Patricia I. Bader, Ian M. Campbell, Robin P. Goin-Kochel, Lisa G. Shaffer, Simeon A. Boyadjiev, Lisa Omo-Griffith, M. Williams, Heather P. Crawford, Gladys Zapata, Mirjana Maletic-Savatic, Gao Wang, Patricia Hixson, Anna Illner, Ankita Patel, Nirupama S. Madduri, Reed A. Omary, Pawel Stankiewicz, James R. Lupski, LaDonna Immken, Gayle Simpson, Xueqing Wang, Seema R. Lalani, Jill V. Hunter, Cameron P. Simmons, Erica E. Davis, Melissa B. Ramocki, Neil A. Hanchard, Wojciech Wiszniewski, Carlos A. Bacino, John W. Belmont, Marija Stosic, Lorraine Potocki, Sau Wai Cheung, Qi Tian, Mahshid S. Azamian, Sumit Pruthi, Arthur L. Beaudet, Apiwat Mutirangura, Chiea Chuen Khor, Thomas M. Morgan, Matthew E. Hurles, Pattamawadee Yanatatsaneejit, Sarah J. Dunstan, Suzanne M. Leal, Gunter Scharer, Martin L. Hibberd, Monica J. Justice, Audrey R. Ester, Penelope E. Bonnen, Adiaha I.A. Franklin, Regie Lyn P. Santos-Cortez, Patricia P. Hernandez, Chad A. Shaw, Zili D. Chu, Anna Eifert, Jason R. Willer, Thomas E. Gallagher, Violet Gelowani, Nicholas Katsanis, Nguyen Van Vinh Chau, Muhammad E Haque, Michele K. York, Aye Thida
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Tetraspanins, Molecular Sequence Data, Population, Biology, Bioinformatics, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Asian People, Leukoencephalopathies, Genetics, Humans, Genetic Predisposition to Disease, Language Development Disorders, Genetics(clinical), Age of Onset, Allele, Child, education, Allele frequency, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, education.field_of_study, Base Sequence, Haplotype, Brain, Correction, Aging, Premature, Exons, Sequence Analysis, DNA, Magnetic Resonance Imaging, Hyperintensity, Pedigree, Child, Preschool, Chromosomes, Human, Pair 2, Female, Age of onset, 030217 neurology & neurosurgery, Minigene
-
18
المؤلفون: Pawel Stankiewicz, James R. Lupski, Seema R. Lalani, Weimin Bi, Chad A. Shaw, Sau Wai Cheung, Carlos A. Bacino, Caroline Borgan, Ankita Patel, Amber N. Pursley, Patricia Hixson, Arthur L. Beaudet
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 15(6)
مصطلحات موضوعية: Genetics, Chromosome Aberrations, DNA Copy Number Variations, Microarray analysis techniques, Mosaicism, Chromosomal translocation, Karyotype, Genomics, Biology, Translocation, Genetic, Chromosome Banding, Chromosome analysis, Karyotyping, Cytogenetic Analysis, Fish
, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis -
19
المؤلفون: Lance W. Patterson, Xueqing Wang, Fatima Boricha, Sophia Ali, Seema R. Lalani, Carlos A. Bacino, Brian Dawson, James R. Lupski, Chumei Li, Chad A. Shaw, Patricia Hixson, John L. Jefferies, Runako Whittaker, Aamir Malik, Ankita Patel, Pawel Stankiewicz, Katarzyna E. Kolodziejska, Przemyslaw Szafranski, Zhishuo Ou, Stephanie M. Ware, Sung Hae L. Kang, Arthur L. Beaudet, Qi Tian, John W. Belmont, Lorraine Potocki, Daniel J. Penny, Amina Jinnah, Sau Wai Cheung
المصدر: European journal of human genetics : EJHG. 21(2)
مصطلحات موضوعية: Male, DNA Copy Number Variations, Chromosomes, Human, Pair 22, Chromosome Disorders, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Article, Cohort Studies, Genetics, Humans, In patient, Genetic Predisposition to Disease, Copy-number variation, Eye Abnormalities, Protein Interaction Maps, Gene, Genetics (clinical), Sequence Deletion, Aneuploidy, DNA Copy Number Variants, Cardiovascular Diseases, Cohort, Cardiovascular malformations, Female, Chromosomes, Human, Pair 16, Genome-Wide Association Study
-
20
المؤلفون: Pawel Stankiewicz, Przemyslaw Szafranski, Jens Witsch, Sau Wai Cheung, Gayle Patel, LaDonna Immken, Christian P. Schaaf, Chun-An Chen, Patricia Hixson
المصدر: European journal of human genetics : EJHG. 21(11)
مصطلحات موضوعية: Male, Microcephaly, Developmental Disabilities, Short Report, Biology, Real-Time Polymerase Chain Reaction, Short stature, Receptor, IGF Type 1, Exon, Genetics, medicine, Humans, RNA, Messenger, Child, Genetics (clinical), Sequence Deletion, Comparative Genomic Hybridization, Psychomotor retardation, Microarray analysis techniques, Point mutation, Mental Disorders, Infant, Exons, medicine.disease, Phenotype, body regions, medicine.symptom, Haploinsufficiency, Gene Deletion
Full Text Finder