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1دورية أكاديمية
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
وصف الملف: electronic resource
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2دورية أكاديمية
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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3دورية أكاديمية
المؤلفون: Merlin G. Butler, Waheeda A. Hossain, Neil Cowen, Anish Bhatnagar
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 2, p 1220 (2023)
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, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4دورية أكاديمية
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, Vol 23, Iss 16, p 9090 (2022)
مصطلحات موضوعية: FMR1 gene, fragile X syndrome, FMR1 gray zone or intermediate alleles, connective tissue-related disorders, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
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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6دورية أكاديمية
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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7دورية أكاديمية
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, Vol 22, Iss 4, p 1660 (2021)
مصطلحات موضوعية: 15q11.2 BP1-BP2 deletion, Burnside-Butler syndrome, clinical findings, cognition, neuropsychiatric behavior development, genomic characterization, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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8
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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9
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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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974c6871636f6938a97b173046be5766
https://pubmed.ncbi.nlm.nih.gov/35437976