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1Academic Journal
المؤلفون: Olivia J. Veatch, Jacob Steinle, Waheeda A. Hossain, Merlin G. Butler
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Heritable connective tissue disorders, Ehlers–Danlos syndrome, Next-generation sequencing, Phenotype-genotype relationships, Gene variants, Latent class analysis, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2Academic Journal
المؤلفون: Samuel P. Strom, Waheeda A. Hossain, Melina Grigorian, Mickey Li, Joseph Fierro, William Scaringe, Hai-Yun Yen, Mirandy Teguh, Joanna Liu, Harry Gao, Merlin G. Butler
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: streamlined molecular diagnostics, whole-exome sequencing, copy number variants, point mutations, methylation status, Prader–Willi syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Paula J. Fite, Shaquanna Brown, Waheeda A. Hossain, Ann Manzardo, Merlin G. Butler, Marco Bortolato
المصدر: Frontiers in Genetics, Vol 10 (2020)
مصطلحات موضوعية: polysubstance use, MAOA, child maltreatment, sex differences, gene × environment interactions, Genetics, QH426-470
وصف الملف: electronic resource
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4Academic Journal
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2838 (2024)
مصطلحات موضوعية: Mowat–Wilson syndrome (MWS), case report, review, ZEB2 gene variants, ZEB2 protein domains and defects, ZEB2 functional molecular interactions, Biology (General), QH301-705.5, Chemistry, QD1-999
Relation: https://www.mdpi.com/1422-0067/25/5/2838; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/d32a5696b1614d8d9a078fcd4defe72e
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5Academic Journal
المؤلفون: Merlin G. Butler, Waheeda A. Hossain, Neil Cowen, Anish Bhatnagar
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1220
مصطلحات موضوعية: Prader-Willi syndrome (PWS), high-resolution chromosomal microarray, PWS molecular genetic classes, typical 15q11-q13 deletion subtypes, maternal disomy 15 subclasses, atypical PWS genetic findings, DESTINY PWS
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24021220
الاتاحة: https://doi.org/10.3390/ijms24021220
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6Academic Journal
المؤلفون: Merlin G. Butler, Waheeda A. Hossain, Jacob Steinle, Harry Gao, Eleina Cox, Yuxin Niu, May Quach, Olivia J. Veatch
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 16; Pages: 9090
مصطلحات موضوعية: FMR1 gene, fragile X syndrome, FMR1 gray zone or intermediate alleles, connective tissue-related disorders
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23169090
الاتاحة: https://doi.org/10.3390/ijms23169090
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7Academic Journal
المؤلفون: Isaac Baldwin, Robin L. Shafer, Waheeda A. Hossain, Sumedha Gunewardena, Olivia J. Veatch, Matthew W. Mosconi, Merlin G. Butler
المصدر: International Journal of Molecular Sciences; Volume 22; Issue 4; Pages: 1660
مصطلحات موضوعية: 15q11.2 BP1-BP2 deletion, Burnside-Butler syndrome, clinical findings, cognition, neuropsychiatric behavior development, genomic characterization, exome sequencing, protein–protein interaction
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22041660
الاتاحة: https://doi.org/10.3390/ijms22041660
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8
المصدر: Am J Med Genet A
مصطلحات موضوعية: Adult, Male, Nonsynonymous substitution, Joint hypermobility, Heterozygote, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Adolescent, Mutation, Missense, Connective tissue, Biology, Article, ADAMTS Proteins, Genetics, medicine, Humans, Missense mutation, Family history, Connective Tissue Diseases, Gene, Genetics (clinical), Middle Aged, Prognosis, medicine.disease, medicine.anatomical_structure, Dysplasia, Female
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9
المصدر: American journal of medical genetics. Part A. 188(10)
مصطلحات موضوعية: ADAMTS Proteins, Connective Tissue, Genetics, Skin Abnormalities, High-Throughput Nucleotide Sequencing, Humans, Ehlers-Danlos Syndrome, Connective Tissue Diseases, Genetics (clinical), Marfan Syndrome
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10
المؤلفون: Moris A. Angulo, Merlin G. Butler, Waheeda A. Hossain, Mariano Castro-Magana, Jorge Corletto
المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(6)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatric Obesity, Endocrinology, Adrenocorticotropic Hormone, Hydrocortisone, Human Growth Hormone, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Humans, Child, Prader-Willi Syndrome, Adrenal Insufficiency, Retrospective Studies
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11
المؤلفون: Sumedha Gunewardena, Isaac Baldwin, Merlin G. Butler, Olivia J. Veatch, Matthew W. Mosconi, Robin L. Shafer, Waheeda A. Hossain
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 1660, p 1660 (2021)
Volume 22
Issue 4مصطلحات موضوعية: cognition, Male, Microarray, lcsh:Chemistry, Child, lcsh:QH301-705.5, Postural Balance, Spectroscopy, Exome sequencing, Genetics, Aged, 80 and over, medicine.diagnostic_test, General Medicine, genomic characterization, Middle Aged, Phenotype, Computer Science Applications, 15q11.2 BP1-BP2 deletion, Child, Preschool, Speech delay, Female, medicine.symptom, Adult, Genetic Markers, Adolescent, Biology, Burnside-Butler syndrome, Catalysis, Article, Inorganic Chemistry, Young Adult, Intellectual Disability, Exome Sequencing, medicine, Humans, Family, Genetic Predisposition to Disease, Physical and Theoretical Chemistry, Molecular Biology, Gene, Genetic testing, Aged, Chromosome Aberrations, Chromosomes, Human, Pair 15, neuropsychiatric behavior development, Organic Chemistry, clinical findings, medicine.disease, protein–protein interaction, lcsh:Biology (General), lcsh:QD1-999, Autism
وصف الملف: application/pdf
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12
المؤلفون: Joanna Liu, Mirandy Teguh, Harry Gao, Samuel P. Strom, Merlin G. Butler, Hai-Yun Yen, William A Scaringe, Waheeda A. Hossain, Mickey Li, Melina Grigorian, Joseph Fierro
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Prader–Willi syndrome, point mutations, Rett syndrome, streamlined molecular diagnostics, 030105 genetics & heredity, Uniparental Heterodisomy, QH426-470, 03 medical and health sciences, Angelman syndrome, Genetics, Medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, whole-exome sequencing, Genetics (clinical), Exome sequencing, Original Research, methylation status, business.industry, Molecular diagnostics, medicine.disease, 030104 developmental biology, Uniparental Isodisomy, Molecular Medicine, business, copy number variants
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13
المصدر: American Journal of Medical Genetics Part A. 176:2587-2594
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Bioenergetics, Cell Respiration, Population, Article, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Basal (phylogenetics), Adenosine Triphosphate, 0302 clinical medicine, Internal medicine, Respiration, Genetics, medicine, Humans, Child, education, Genetics (clinical), Chromosomes, Human, Pair 15, education.field_of_study, business.industry, Infant, nutritional and metabolic diseases, Hypotonia, Mitochondria, nervous system diseases, Phenotype, 030104 developmental biology, Endocrinology, chemistry, Case-Control Studies, Child, Preschool, Failure to thrive, Female, medicine.symptom, business, Prader-Willi Syndrome, Adenosine triphosphate, 030217 neurology & neurosurgery, Hormone
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14
المؤلفون: Virginia Kimonis, Ann M. Manzardo, Elisabeth M. Dykens, Jennifer L. Miller, Samantha N. Hartin, Merlin G. Butler, June-Anne Gold, Roy N. Tamura, Nicolette Weisensel, Waheeda A. Hossain, Soo Jeong Kim, Daniel J. Driscoll
المصدر: J Med Genet
مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Article, Cohort Studies, Loss of heterozygosity, Young Adult, 03 medical and health sciences, Chromosome 15, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Imprinting (psychology), Child, Genotyping, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, Pair 15, Infant, Middle Aged, medicine.disease, Obesity, 030104 developmental biology, Child, Preschool, Mutation, Cohort, Female, Chromosome Deletion, Genomic imprinting, Prader-Willi Syndrome, Cohort study
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15
المؤلفون: Maaz Hassan, Merlin G. Butler, Ann M. Manzardo, Waheeda A. Hossain
المصدر: Growth Hormone & IGF Research. 39:29-33
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Growth hormone receptor, Scoliosis, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Genotype, Humans, Medicine, Allele, Child, Polymorphism, Genetic, business.industry, Infant, Middle Aged, Prognosis, medicine.disease, Growth hormone treatment, 030104 developmental biology, Genetic marker, Case-Control Studies, Child, Preschool, Female, Gene polymorphism, medicine.symptom, Carrier Proteins, business, Prader-Willi Syndrome, Weight gain, Biomarkers, Follow-Up Studies
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16
المؤلفون: Merlin G. Butler, Samantha N. Hartin, Waheeda A. Hossain, Shaquanna Brown, Ann M. Manzardo, Paula J. Fite
المصدر: J Aggress Maltreat Trauma
مصطلحات موضوعية: Aggression, education, 050901 criminology, 05 social sciences, Health Professions (miscellaneous), Article, Psychiatry and Mental health, Clinical Psychology, medicine, Habitus, 0501 psychology and cognitive sciences, 0509 other social sciences, Young adult, medicine.symptom, Psychology, 050104 developmental & child psychology, Demography
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17
المؤلفون: Paula J, Fite, Shaquanna, Brown, Waheeda A, Hossain, Ann, Manzardo, Merlin G, Butler, Marco, Bortolato
المصدر: Frontiers in Genetics
مصطلحات موضوعية: sex differences, gene × environment interactions, Genetics, MAOA, child maltreatment, polysubstance use, Original Research
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18
المؤلفون: Paula J. Fite, Shaquanna Brown, Waheeda A. Hossain, Ann Manzardo, Merlin G. Butler, Marco Bortolato
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, polysubstance use, MAOA, child maltreatment, sex differences, gene × environment interactions
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19
المؤلفون: Merlin G. Butler, Ranim Mahmoud, Preeti Singh, Anita Lakatos, Melanie Oakes, Virginia Kimonis, Waheeda A. Hossain, Lan Weiss
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, Disease, DNA Fragmentation, 030105 genetics & heredity, Bioinformatics, Short stature, Article, 03 medical and health sciences, Chromosome 15, Young Adult, Neonatal Screening, Genetics, medicine, Humans, Child, Genetics (clinical), Genetic testing, Sequence Deletion, Newborn screening, Chromosomes, Human, Pair 15, medicine.diagnostic_test, business.industry, Infant, Newborn, Chromosome, nutritional and metabolic diseases, DNA Methylation, Middle Aged, DNA extraction, nervous system diseases, Early Diagnosis, Child, Preschool, DNA methylation, Female, medicine.symptom, business, Nucleic Acid Amplification Techniques, Prader-Willi Syndrome
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20
المؤلفون: Samantha N. Hartin, Sangjucta Barkataki, David E. Godler, Waheeda A. Hossain, Merlin G. Butler, David Francis
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Microarray, Adolescent, Concordance, Genetic counseling, 030105 genetics & heredity, Biology, droplet digital PCR, 03 medical and health sciences, Chromosome 15, Genomic Imprinting, Exome Sequencing, Genetics, Humans, Digital polymerase chain reaction, Genetic Testing, Imprinting (psychology), Child, Prader–Willi syndrome (PWS), Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Chromosomes, Human, Pair 15, epimutation, Original Articles, 3. Good health, 030104 developmental biology, imprinting center, Child, Preschool, Female, Original Article, whole‐exome sequencing, microdeletion, Prader-Willi Syndrome, Gene Deletion
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