المؤلفون: Patricia Heard, Annice Hill, Jannine D. Cody, Courtney Sebold, David Rupert, Daniel E. Hale, Minire Hasi-Zogaj

المصدر: Human Genetics. 137:961-970

مصطلحات موضوعية: 0301 basic medicine, Genome, Human, Gene Dosage, Chromosome Mapping, Computational biology, Hemizygosity, 030105 genetics & heredity, Biology, Penetrance, Gene dosage, Genome, Human genetics, 03 medical and health sciences, Phenotype, Chromosome 18, Gene duplication, Genetics, Humans, Chromosomes, Human, Pair 18, Haploinsufficiency, Microtubule-Associated Proteins, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2cd86532c65d209216668397b02098c
https://doi.org/10.1007/s00439-018-1960-6

المؤلفون: Hrishikesh Das, Minire Hasi-Zogaj, Bridgette Soileau, Alvaro Moreira, Daniel E. Hale, Jan M. Bruder, Annice Hill, Jannine D. Cody

المصدر: American journal of medical genetics. Part A. 179(3)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Craniofacial abnormality, Young Adult, Tetrasomy 18p, Chromosome 18, Bone Density, Genetics, medicine, Low bone density, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Genetic Association Studies, Bone mineral, business.industry, medicine.disease, Aneuploidy, Osteopenia, Clinical research, Phenotype, Cohort, Female, business, Chromosomes, Human, Pair 18, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea5eec516b2a8ce0ec61e3c8822ad59
https://pubmed.ncbi.nlm.nih.gov/30637922

المؤلفون: David Rupert, Brian Perry, Louise O'Donnell, Peter T. Fox, Jonathan Gelfond, Annice Hill, Bridgette Soileau, Jack L. Lancaster, Erika Carter, Courtney Sebold, Daniel E. Hale, Patricia Heard, Jannine D. Cody, Minire Hasi-Zogaj

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 169:265-280

مصطلحات موضوعية: Genetics, Heart disease, Hemizygosity, Biology, Bioinformatics, medicine.disease, Phenotype, Gene dosage, Speech delay, Intellectual disability, medicine, Sensorineural hearing loss, medicine.symptom, Haploinsufficiency, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::df4795cbd9232d99ca0c5bcb572747c2
https://doi.org/10.1002/ajmg.c.31446

المؤلفون: Minire Hasi-Zogaj, Bridgette Soileau, Daniel E. Hale, David Rupert, Annice Hill, Courtney Sebold, Patricia Heard, Jannine D. Cody

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, chromosome abnormalities, medicine.medical_specialty, 18q‐, Chromosome Disorders, 03 medical and health sciences, Tetrasomy 18p, Chromosome (genetic algorithm), Clinical Protocols, Chromosome 18, Databases, Genetic, Genetics, Medicine, Humans, Molecular Biology, Genetics (clinical), Data Curation, Chromosome Aberrations, Data curation, business.industry, chromosome 18, Original Articles, medicine.disease, Natural history, 030104 developmental biology, Clinical research, Family medicine, Karyotyping, Ring 18, Chromosome abnormality, Original Article, 18p‐, business, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a034f083ef0cdf3c975e7297688ef3f5
https://pubmed.ncbi.nlm.nih.gov/29603904

المؤلفون: Bridgette Soileau, Erika Carter, Courtney Sebold, Brian Perry, Rebecca L. Schaub, AnaLisa C. Crandall, Jannine D. Cody, Peter T. Fox, Annice Hill, Daniel E. Hale, Jack L. Lancaster, L. Jean Hardies, Patricia Heard, Jinqi Li, Minire Hasi, Robert F. Stratton

المصدر: American Journal of Medical Genetics Part A. :1421-1430

مصطلحات موضوعية: Candidate gene, Genotype, Genetic Linkage, Ear, Middle, Penetrance, Biology, Kidney, Article, Growth hormone deficiency, Chromosome 18, Genetic linkage, Genetics, medicine, Humans, Ear Diseases, Growth Disorders, Genetics (clinical), Chromosome Aberrations, Chromosome Mapping, medicine.disease, Phenotype, Hereditary Central Nervous System Demyelinating Diseases, Atresia, Kidney Diseases, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4932d367df2911261d9df41adbc7dd0e
https://doi.org/10.1002/ajmg.a.32899

المؤلفون: Jannine D, Cody, Courtney, Sebold, Patricia, Heard, Erika, Carter, Bridgette, Soileau, Minire, Hasi-Zogaj, Annice, Hill, David, Rupert, Brian, Perry, Louise, O'Donnell, Jon, Gelfond, Jack, Lancaster, Peter T, Fox, Daniel E, Hale

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. 169(3)

مصطلحات موضوعية: Male, Phenotype, Adolescent, Genotype, Humans, Abnormalities, Multiple, Chromosome Deletion, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::05ca608a21eaea0ac761adddbf98cf3f
https://pubmed.ncbi.nlm.nih.gov/26235940

المؤلفون: Bridgette Soileau, Courtney Sebold, Annice Hill, Jannine D. Cody, Louise O'Donnell, Minire Hasi, Daniel E. Hale

المصدر: Journal of genetic counseling. 24(4)

مصطلحات موضوعية: Adult, Male, Longitudinal study, Genetic counseling, Genetic Counseling, Developmental psychology, Tetrasomy 18p, Chromosome 18, Pregnancy, medicine, Humans, Longitudinal Studies, Child, Genetics (clinical), Aged, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, Infant, Newborn, Infant, Middle Aged, medicine.disease, Educational attainment, Phenotype, Cohort, Ring 18, Chromosome abnormality, Quality of Life, Female, Psychology, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12edfbdcced61ee7797d8801ea67c2b
https://pubmed.ncbi.nlm.nih.gov/25403900

المؤلفون: Brian Perry, Courtney Sebold, Erika Carter, Daniel E. Hale, Jonathan Gelfond, Annice Hill, Minire Hasi, Jannine D. Cody, Patricia Heard

المصدر: Otologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 35(5)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Chromosome Disorders, Audiology, Article, Young Adult, Audiometry, Hearing, Chromosome 18, Medicine, Humans, Young adult, Child, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, Retrospective cohort study, medicine.disease, Sensory Systems, Otorhinolaryngology, Child, Preschool, Sensorineural hearing loss, Female, Neurology (clinical), medicine.symptom, Chromosome Deletion, business, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1770c0c23f2d01473ef23418dd04919
https://pubmed.ncbi.nlm.nih.gov/24662633

المؤلفون: Minire Hasi, Patricia Heard, Bridgette Soileau, Brian Perry, Louise O'Donnell, Jannine D. Cody, Daniel E. Hale, Robert F. Stratton, Courtney Sebold, Erika Carter

المصدر: Human genetics. 133(2)

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Hearing loss, Gene Dosage, Chromosome Disorders, Biology, Gene dosage, Article, Cohort Studies, Young Adult, Adaptation, Psychological, Genetics, medicine, Humans, Longitudinal Studies, Asperger Syndrome, Autistic Disorder, Child, Genetics (clinical), Serpins, Breakpoint, Chromosome Mapping, medicine.disease, Cadherins, Phenotype, Texas, Hypotonia, Human genetics, Hypospadias, Child, Preschool, Karyotyping, Distal 18q, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7e68d1b29faffd5c388f9c654c4ddb
https://pubmed.ncbi.nlm.nih.gov/24092497

المؤلفون: Courtney Sebold, Daniel E. Hale, Annice Hill, Louise O'Donnell, Bridgette Soileau, Jannine D. Cody, Minire Hasi

المصدر: Human genetics. 130(6)

مصطلحات موضوعية: Male, Adolescent, Genotype, Context (language use), Hemizygosity, Pitt–Hopkins syndrome, Biology, Article, Cohort Studies, Transcription Factor 4, Intellectual Disability, Genetics, medicine, Humans, Hyperventilation, Family, Child, Genetics (clinical), Chromosome Aberrations, Hemizygote, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Facies, TCF4, Syndrome, medicine.disease, Human genetics, Phenotype, Distal 18q, Female, Sacral dimple, Chromosome Deletion, Chromosomes, Human, Pair 18, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a94ada86278b1845b0d1be022911264
https://pubmed.ncbi.nlm.nih.gov/21671075

المؤلفون: Bridgette Soileau, Marsha Zimmerman, Elizabeth Roeder, Annice Hill, W. Abraham White, Minire Hasi, Erika Carter, Courtney Sebold, John Li, Brian Perry, Jack L. Lancaster, Louise O'Donnell, Daniel E. Hale, Martha P. Schatz, Lauren Pankratz, Kent A. Reinker, Jannine D. Cody, Patricia Heard

المصدر: American journal of medical genetics. Part A. (9)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Genotype, Developmental Disabilities, Isochromosome, Aneuploidy, Biology, Short stature, Tetrasomy 18p, Chromosome 18, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Comparative Genomic Hybridization, Proximal 18q, medicine.disease, Phenotype, Karyotyping, Tetrasomy, Female, medicine.symptom, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08661498d360b541567ca3244f44c985
https://pubmed.ncbi.nlm.nih.gov/20803640

المؤلفون: Bridgette Soileau, Minire Hasi, Courtney Sebold, Annice Hill, Louise O'donnell, Daniel E Hale, Jannine D Cody

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://files.ctctcdn.com/3590fd91101/6effc460-dd27-4184-938e-9c469cc728a2.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1060.8189; http://files.ctctcdn.com/3590fd91101/6effc460-dd27-4184-938e-9c469cc728a2.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1060.8189
http://files.ctctcdn.com/3590fd91101/6effc460-dd27-4184-938e-9c469cc728a2.pdf