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1دورية أكاديمية
المؤلفون: Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F. Chehab
المصدر: PLoS ONE, Vol 8, Iss 9 (2013)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F Chehab
المصدر: PLoS ONE, Vol 7, Iss 12, p e52353 (2012)
وصف الملف: electronic resource
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3
المؤلفون: Andrew C. An, Christina Garcia Lopez, Michael Kwong, Bryan D. Hall, Lauren Lee, Mahin Golabi
المصدر: American Journal of Medical Genetics Part A. 164:204-207
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, business.industry, Genitourinary system, Infant, Newborn, Syndrome, Anatomy, medicine.disease, Lower half, Infant newborn, Myelopathy, Phenotype, Lower body, Lumbar, Infantile hemangioma, Genetics, medicine, Etiology, Humans, Abnormalities, Multiple, business, Genetics (clinical)
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4
المؤلفون: Katherine Culver, Aaron W. James, Philip D. Cotter, Mahin Golabi, Nina Desai
المصدر: American Journal of Medical Genetics Part A. :693-697
مصطلحات موضوعية: Heart Defects, Congenital, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Monosomy, Aneuploidy, Gonadal dysgenesis, Biology, Translocation, Genetic, Pregnancy, Gardner Syndrome, Double outlet right ventricle, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Gonadal Dysgenesis, 46,XY, Phenocopy, Chromosomes, Human, Pair 10, Genetic heterogeneity, Infant, Newborn, Karyotype, Syndrome, medicine.disease, Cleft Palate, Phenotype, Endocrinology, Chromosomes, Human, Pair 1, Karyotyping, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Chromosomes, Human, Pair 7
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5
المؤلفون: Bryan D. Hall, Kathy Culver, Mahin Golabi, Suzette G. Miranda, Aaron W. James
المصدر: American Journal of Medical Genetics Part A. :2821-2831
مصطلحات موضوعية: Male, medicine.medical_specialty, Hearing loss, Deafness, Nail Diseases, DOOR syndrome, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), business.industry, Coarse facial features, Infant, Newborn, Syndrome, medicine.disease, Dermatology, Natural history, Developmental disorder, Phenotype, Nail disease, Anteverted nares, Female, Sensorineural hearing loss, Bone Diseases, medicine.symptom, business
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6
المؤلفون: Seymour Packman, Kara Weisiger, Dana Kostiner, Elliott H. Sherr, Jill Goldman, Anne Slavotinek, H. Eugene Hoyme, William R. Wilcox, Mahin Golabi
المصدر: American Journal of Medical Genetics Part A. :197-201
مصطلحات موضوعية: Hypertrichosis, medicine.medical_specialty, Ataxia, Cerebellar ataxia, business.industry, Marinesco–Sjögren syndrome, medicine.disease, Dermatology, digestive system diseases, Hypotonia, Endocrinology, Ptosis, Internal medicine, Genetics, medicine, Cerebellar atrophy, medicine.symptom, business, Cerebellar hypoplasia, Genetics (clinical)
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7
المؤلفون: Mahin Golabi, Philip D. Cotter, Katherine A. Rauen, L. Li, Sheila M. Bitts
المصدر: Clinical Genetics. 60:366-370
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Unequal crossing over, Cytogenetics, Chromosome, Karyotype, Biology, medicine.disease, Blepharophimosis, dup, Gene duplication, medicine, Tandem exon duplication, Genetics (clinical)
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8
المؤلفون: Lynda C. Schneider, Melissa E. Elder, Seth J. Orlow, Jonathan Zonana, Diane W. Wara, Celia Moss, Betsy Ferguson, Mahin Golabi, Stuart K. Shapira, Peter Farndon, Stephanie A. Emmal
المصدر: The American Journal of Human Genetics. 67(6):1555-1562
مصطلحات موضوعية: Genetics, 0303 health sciences, Ectodermal dysplasia, EDARADD, Incontinentia pigmenti, Biology, medicine.disease, 3. Good health, Immunodeficiency Syndrome, 03 medical and health sciences, 0302 clinical medicine, Report, 030220 oncology & carcinogenesis, IKBKG, Ectodysplasins, medicine, Genetics(clinical), Hypohidrotic ectodermal dysplasia, skin and connective tissue diseases, Genetics (clinical), Immunodeficiency, 030304 developmental biology
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9
المؤلفون: Jerome Yankowitz, Arthur S. Aylsworth, Alison E. Winder, Robin Imagire, Amanda Ewart-Toland, Victoria A. Cox, Mahin Golabi
المصدر: American Journal of Medical Genetics. 90:303-309
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Hearing loss, business.industry, Genetic counseling, Microtia, Dysostosis, Goldenhar syndrome, medicine.disease, Hemifacial microsomia, Endocrinology, Internal medicine, Diabetes mellitus, medicine, Craniofacial, medicine.symptom, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ed297769519ddf084bf06e304e14601
https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<303::aid-ajmg8>3.0.co;2-q -
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المؤلفون: Stephen I. Goodman, Kara Weisiger, Carol Ohnstad, Michael J. Bennett, Gregory M. Enns, Seymour Packman, Mahin Golabi, Charles L. Hoppel
المصدر: The Journal of Pediatrics. 136:251-254
مصطلحات موضوعية: medicine.medical_specialty, Coenzyme A, Respiratory chain, Biology, medicine.disease, 3-Hydroxyacyl-CoA Dehydrogenase, chemistry.chemical_compound, Mitochondrial respiratory chain, Endocrinology, Biochemistry, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, lipids (amino acids, peptides, and proteins), Mitochondrial respiratory chain complex I, Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, Beta oxidation, Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase