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1دورية أكاديمية
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2دورية أكاديميةNovel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
المؤلفون: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: TRIO gene, Autism, Macrocephaly, Microcephaly, Cutis aplasia, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديميةNovel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
المؤلفون: Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, FilippoAff1, Aff2, Klee, Eric W.Aff1, Aff2, Lanpher, BrendanAff2
المصدر: BMC Medical Genetics. 21(1)
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4كتاب إلكتروني
المؤلفون: Jablon, KimberlyAff2, Mathes, ErinAff3
المساهمون: Hogeling, Marcia, editorAff1
المصدر: Case-Based Inpatient Pediatric Dermatology. :131-146
Degree: MD
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5دورية أكاديمية
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المؤلفون: K. Chakrabarty, S.S. Jing
المصدر: JPRAS Open, Vol 25, Iss, Pp 4-7 (2020)
JPRAS Openمصطلحات موضوعية: medicine.medical_specialty, Scalp, Tubed pedicle, Radial forearm flap, business.industry, Case Reports and Short Communication, lcsh:Surgery, Occiput, lcsh:RD1-811, Free flap, Pedicled Flap, Aplasia cutis congenita, Surgery, medicine.anatomical_structure, Cutis aplasia, Forearm, medicine, Reconstruction, medicine.symptom, business
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المؤلفون: V. Reid Sutton, Bret L. Bostwick, Ignatia B. Van den Veyver
المصدر: Harper's Textbook of Pediatric Dermatology
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ectrodactyly, Linear hyperpigmentation, Blaschko's lines, Anatomy, Biology, medicine.disease, Microphthalmia, Focal dermal hypoplasia, PORCN, Cutis aplasia, medicine, X chromosome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa60578c378246f6ca10ed66d938ec3
https://doi.org/10.1002/9781119142812.ch135 -
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المؤلفون: Brian T. Andrews, James D. Vargo, Ayesha Hasan
المصدر: Clinics in Perinatology. 45:699-715
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Prenatal diagnosis, Risk Assessment, Ultrasonography, Prenatal, Craniosynostosis, Encephalocele, Craniofacial Abnormalities, Craniosynostoses, 03 medical and health sciences, 0302 clinical medicine, Second trimester, medicine, Humans, Plagiocephaly, Nonsynostotic, business.industry, Obstetrics and Gynecology, Plastic Surgery Procedures, medicine.disease, Perinatology, Skull, Treatment Outcome, medicine.anatomical_structure, Cutis aplasia, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Quality of Life, Female, Identification (biology), Deformational plagiocephaly, business, 030217 neurology & neurosurgery
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المؤلفون: Gurpur Shashidhar Pai, Lara Wine Lee, Carter Ellis
المصدر: Pediatric dermatologyREFERENCES. 38(2)
مصطلحات موضوعية: medicine.medical_specialty, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Ectodermal Dysplasia, Intellectual Disability, Intellectual disability, Medicine, Humans, Abnormalities, Multiple, Global developmental delay, Dysmorphic facial features, business.industry, Genetic disorder, Infant, medicine.disease, Hypotonia, Musculoskeletal Abnormalities, Cutis aplasia, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Aplasia cutis
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10دورية أكاديمية
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تسجيل الدخول للوصول الكامل.